MMADHC-DT

MMADHC divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 2:149587196-150047447

Links

ENSG00000231969 ∙ NCBI:101929231 ∙ ∙ HGNC:41087 ∙ ∙ ∙ 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 MMADHC-DT gene.

• not provided (5 variants)
• Disorders of Intracellular Cobalamin Metabolism (4 variants)
• Methylmalonic aciduria and homocystinuria type cblD (4 variants)
• not specified (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MMADHC-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			2	6	1	9
Total	0	0	2	6	1

Variants in MMADHC-DT

This is a list of pathogenic ClinVar variants found in the MMADHC-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
2-149587228-G-T			Likely benign (May 08, 2021)
2-149587299-C-T			Benign (Jun 29, 2018)
2-149587408-G-C			Likely benign (Dec 20, 2018)
2-149587646-G-A		not specified	Likely benign (Sep 28, 2017)
2-149587666-G-C		not specified	Likely benign (May 10, 2016)
2-149587671-C-T		Methylmalonic aciduria and homocystinuria type cblD • Disorders of Intracellular Cobalamin Metabolism	Conflicting classifications of pathogenicity (May 21, 2018)
2-149587673-C-T		Methylmalonic aciduria and homocystinuria type cblD • Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)
2-149587747-C-G		Methylmalonic aciduria and homocystinuria type cblD • Disorders of Intracellular Cobalamin Metabolism	Uncertain significance (Jan 13, 2018)
2-149587756-T-C		Disorders of Intracellular Cobalamin Metabolism • Methylmalonic aciduria and homocystinuria type cblD	Benign/Likely benign (Jul 02, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP