SOWAHC

sosondowah ankyrin repeat domain family member C, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 2:109614364-109618990

Previous symbols: [ "C2orf26", "ANKRD57" ]

Links

ENSG00000198142 ∙ NCBI:65124 ∙ ∙ HGNC:26149 ∙ Uniprot:Q53LP3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SOWAHC gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SOWAHC gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			53	1		54
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	53	1	0

Variants in SOWAHC

This is a list of pathogenic ClinVar variants found in the SOWAHC region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-109614530-G-T		not specified	Uncertain significance (Jun 05, 2023)
2-109614533-C-T		not specified	Uncertain significance (Jan 23, 2025)
2-109614574-G-T		not specified	Uncertain significance (Jul 11, 2023)
2-109614582-C-A		not specified	Uncertain significance (Oct 18, 2021)
2-109614586-G-C		not specified	Uncertain significance (Nov 10, 2021)
2-109614596-A-G		not specified	Uncertain significance (Jun 10, 2024)
2-109614616-G-A		not specified	Uncertain significance (Mar 03, 2022)
2-109614626-C-G		not specified	Uncertain significance (Aug 10, 2023)
2-109614629-A-G		not specified	Uncertain significance (Dec 16, 2023)
2-109614641-G-A		not specified	Uncertain significance (Aug 08, 2023)
2-109614643-G-A		not specified	Uncertain significance (Dec 28, 2022)
2-109614654-C-G		not specified	Uncertain significance (Apr 22, 2024)
2-109614671-A-G		not specified	Uncertain significance (May 24, 2023)
2-109614672-C-A		not specified	Uncertain significance (Dec 07, 2024)
2-109614680-C-T		not specified	Uncertain significance (Aug 28, 2024)
2-109614696-T-G		not specified	Uncertain significance (Jul 16, 2024)
2-109614808-G-T		not specified	Uncertain significance (Dec 26, 2024)
2-109614809-A-C		not specified	Uncertain significance (Jun 21, 2021)
2-109614848-A-G		not specified	Uncertain significance (Mar 06, 2023)
2-109614850-G-T		not specified	Uncertain significance (Sep 27, 2024)
2-109614860-C-G		not specified	Uncertain significance (Dec 01, 2022)
2-109614878-A-T		not specified	Uncertain significance (Jun 18, 2024)
2-109614883-C-G		not specified	Uncertain significance (Oct 04, 2024)
2-109614907-C-T		not specified	Uncertain significance (Mar 06, 2023)
2-109614944-C-T		not specified	Uncertain significance (Sep 27, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SOWAHC	protein_coding	protein_coding	ENST00000356454	1	4653

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.143	0.840	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.966	216	260	0.831	0.0000130	3303
Missense in Polyphen		53	81.317	0.65177		982
Synonymous	-1.03	134	120	1.12	0.00000673	1145
Loss of Function	2.06	3	10.0	0.299	4.81e-7	130

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.136
• ghis: 0.408

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Sowahc