GAPDH-DT

GAPDH divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 12:6525540-6533869

Links

ENSG00000255966 ∙ NCBI:112268089 ∙ ∙ HGNC:55492 ∙ ∙ ∙ 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 GAPDH-DT gene.

Variants pathogenicity by type

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

Variants in GAPDH-DT

This is a list of pathogenic ClinVar variants found in the GAPDH-DT region.

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

Position	Type	Phenotype	Significance	ClinVar
12-6525591-G-T		Inborn genetic diseases	Uncertain significance (Mar 29, 2022)
12-6525644-G-A		Inborn genetic diseases	Uncertain significance (Feb 23, 2023)
12-6525651-C-T			Benign (Aug 01, 2024)
12-6525667-T-A		Inborn genetic diseases	Likely benign (Jun 18, 2021)
12-6526060-T-C			Likely benign (May 17, 2018)
12-6526082-T-C		Inborn genetic diseases	Uncertain significance (Dec 20, 2022)
12-6526087-G-A		Inborn genetic diseases	Uncertain significance (May 03, 2023)
12-6526103-C-T		Inborn genetic diseases	Uncertain significance (Aug 17, 2021)
12-6526187-C-T		Inborn genetic diseases	Uncertain significance (Jan 04, 2022)
12-6526281-C-T		Inborn genetic diseases	Uncertain significance (Aug 12, 2021)
12-6526303-G-A		Inborn genetic diseases	Uncertain significance (Dec 13, 2021)
12-6526306-AC-A		Microcephaly 21, primary, autosomal recessive	Likely pathogenic (Jan 08, 2022)
12-6526308-C-A		Inborn genetic diseases	Uncertain significance (Nov 18, 2022)
12-6526311-C-T		Inborn genetic diseases	Uncertain significance (May 25, 2022)
12-6526312-C-T		NCAPD2-related disorder	Benign (Jun 06, 2019)
12-6526317-C-T		Inborn genetic diseases	Uncertain significance (Nov 18, 2022)
12-6526329-G-A		Inborn genetic diseases	Uncertain significance (Feb 16, 2023)
12-6526331-A-T		Inborn genetic diseases	Uncertain significance (Jul 25, 2023)
12-6526401-A-T		Microcephaly 21, primary, autosomal recessive	Benign (Sep 05, 2021)
12-6526528-G-A		Inborn genetic diseases	Uncertain significance (Apr 13, 2022)
12-6526563-A-G		NCAPD2-related disorder	Likely benign (May 24, 2019)
12-6526580-A-G		Inborn genetic diseases	Uncertain significance (Dec 07, 2021)
12-6526591-A-G		Inborn genetic diseases	Uncertain significance (Apr 29, 2024)
12-6526613-C-T		Inborn genetic diseases	Likely benign (Mar 20, 2024)
12-6526885-C-T		Inborn genetic diseases	Uncertain significance (Apr 04, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP