ClinVar

NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val)

Genes:

MFF-DT:MFF divergent transcript [Gene - HGNC]
COL4A3:collagen type IV alpha 3 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q36.3

Genomic location:

• Chr2: 227289222 (on Assembly GRCh38)
• Chr2: 228153938 (on Assembly GRCh37)

Preferred name:

NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val)

HGVS:

• NC_000002.12:g.227289222G>T
• NG_011591.1:g.129658G>T
• NM_000091.5:c.2954G>TMANE SELECT
• NP_000082.2:p.Gly985Val
• NP_000082.2:p.Gly985Val
• LRG_230t1:c.2954G>T
• LRG_230:g.129658G>T
• LRG_230p1:p.Gly985Val
• NC_000002.11:g.228153938G>T
• NM_000091.4:c.2954G>T
• Q01955:p.Gly985Val

This HGVS expression did not pass validation

Protein change:

G985V; GLY985VAL

Links:

UniProtKB: Q01955#VAR_030948; OMIM: 120070.0008; dbSNP: rs121912827

NCBI 1000 Genomes Browser:

rs121912827

Molecular consequence:

• NM_000091.5:c.2954G>T - missense variant - [Sequence Ontology: SO:0001583]