SPATA31C1

SPATA31 subfamily C member 1

Basic information

Region (hg38): 9:87914488-87923657

Previous symbols: [ "FAM75C1" ]

Links

ENSG00000230246 ∙ NCBI:441452 ∙ ∙ HGNC:27846 ∙ Uniprot:P0DKV0 ∙ 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 SPATA31C1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SPATA31C1 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			12			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	0	0

Variants in SPATA31C1

This is a list of pathogenic ClinVar variants found in the SPATA31C1 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-87920337-G-T		not specified	Uncertain significance (Jun 18, 2021)
9-87920458-G-T		not specified	Uncertain significance (Nov 15, 2021)
9-87920632-G-A		not specified	Uncertain significance (Aug 09, 2021)
9-87920872-T-C		not specified	Uncertain significance (Oct 19, 2021)
9-87921165-T-C		not specified	Uncertain significance (Oct 18, 2021)
9-87921189-G-A		not specified	Uncertain significance (Oct 18, 2021)
9-87921297-G-C		not specified	Uncertain significance (Jul 09, 2021)
9-87921546-G-T		not specified	Uncertain significance (Jun 11, 2021)
9-87921721-C-A		not specified	Uncertain significance (Oct 29, 2021)
9-87921756-A-T		not specified	Uncertain significance (Sep 16, 2021)
9-87922516-C-A		not specified	Uncertain significance (Sep 27, 2021)
9-87922661-G-A		not specified	Uncertain significance (Jun 22, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in spermatogenesis. {ECO:0000250}.

Gene ontology

• Biological process: spermatogenesis;cell differentiation
• Cellular component: integral component of membrane