ClinVar

NM_000088.4(COL1A1):c.1815C>T (p.Gly605=)

Gene:

COL1A1:collagen type I alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.33

Genomic location:

• Chr17: 50193000 (on Assembly GRCh38)
• Chr17: 48270361 (on Assembly GRCh37)

Preferred name:

NM_000088.4(COL1A1):c.1815C>T (p.Gly605=)

HGVS:

• NC_000017.11:g.50193000G>A
• NG_007400.1:g.13640C>T
• NM_000088.4:c.1815C>TMANE SELECT
• NP_000079.2:p.Gly605=
• NP_000079.2:p.Gly605=
• LRG_1t1:c.1815C>T
• LRG_1:g.13640C>T
• LRG_1p1:p.Gly605=
• NC_000017.10:g.48270361G>A
• NM_000088.3:c.1815C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs370384784

NCBI 1000 Genomes Browser:

rs370384784

Molecular consequence:

• NM_000088.4:c.1815C>T - synonymous variant - [Sequence Ontology: SO:0001819]