ClinVar

NM_001848.3(COL6A1):c.2758C>T (p.Leu920=)

Gene:

COL6A1:collagen type VI alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 46003684 (on Assembly GRCh38)
• Chr21: 47423598 (on Assembly GRCh37)

Preferred name:

NM_001848.3(COL6A1):c.2758C>T (p.Leu920=)

HGVS:

• NC_000021.9:g.46003684C>T
• NG_008674.1:g.26936C>T
• NM_001848.3:c.2758C>TMANE SELECT
• NP_001839.2:p.Leu920=
• NP_001839.2:p.Leu920=
• LRG_475t1:c.2758C>T
• LRG_475:g.26936C>T
• LRG_475p1:p.Leu920=
• NC_000021.8:g.47423598C>T
• NM_001848.2:c.2758C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs141620374

NCBI 1000 Genomes Browser:

rs141620374

Molecular consequence:

• NM_001848.3:c.2758C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

5