ClinVar

NM_004369.4(COL6A3):c.1502C>T (p.Thr501Ile)

Gene:

COL6A3:collagen type VI alpha 3 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

• Chr2: 237381310 (on Assembly GRCh38)
• Chr2: 238289953 (on Assembly GRCh37)

Preferred name:

NM_004369.4(COL6A3):c.1502C>T (p.Thr501Ile)

HGVS:

• NC_000002.12:g.237381310G>A
• NG_008676.1:g.37898C>T
• NM_004369.4:c.1502C>TMANE SELECT
• NM_057164.5:c.281C>T
• NM_057165.5:c.884C>T
• NM_057166.5:c.281C>T
• NM_057167.4:c.884C>T
• NP_004360.2:p.Thr501Ile
• NP_004360.2:p.Thr501Ile
• NP_476505.3:p.Thr94Ile
• NP_476506.3:p.Thr295Ile
• NP_476507.3:p.Thr94Ile
• NP_476508.2:p.Thr295Ile
• LRG_473t1:c.1502C>T
• LRG_473:g.37898C>T
• LRG_473p1:p.Thr501Ile
• NC_000002.11:g.238289953G>A
• NM_004369.3:c.1502C>T

This HGVS expression did not pass validation

Protein change:

T295I

Links:

dbSNP: rs776324215

NCBI 1000 Genomes Browser:

rs776324215

Molecular consequence:

• NM_004369.4:c.1502C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_057164.5:c.281C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_057165.5:c.884C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_057166.5:c.281C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_057167.4:c.884C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2