ClinVar

NM_004369.4(COL6A3):c.5253G>A (p.Thr1751=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

• Chr2: 237366934 (on Assembly GRCh38)
• Chr2: 238275577 (on Assembly GRCh37)

Preferred name:

NM_004369.4(COL6A3):c.5253G>A (p.Thr1751=)

HGVS:

• NC_000002.12:g.237366934C>T
• NG_008676.1:g.52274G>A
• NM_004369.4:c.5253G>AMANE SELECT
• NM_057166.5:c.3432G>A
• NM_057167.4:c.4635G>A
• NP_004360.2:p.Thr1751=
• NP_476507.3:p.Thr1144=
• NP_476508.2:p.Thr1545=
• LRG_473:g.52274G>A
• NC_000002.11:g.238275577C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs886043174

NCBI 1000 Genomes Browser:

rs886043174

Molecular consequence:

• NM_004369.4:c.5253G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_057166.5:c.3432G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_057167.4:c.4635G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1