ClinVar

NM_000090.4(COL3A1):c.1257C>T (p.Ala419=)

Gene:

COL3A1:collagen type III alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q32.2

Genomic location:

• Chr2: 188994296 (on Assembly GRCh38)
• Chr2: 189859022 (on Assembly GRCh37)

Preferred name:

NM_000090.4(COL3A1):c.1257C>T (p.Ala419=)

Other names:

p.A419A:GCC>GCT

HGVS:

• NC_000002.12:g.188994296C>T
• NG_007404.1:g.24924C>T
• NM_000090.4:c.1257C>TMANE SELECT
• NP_000081.1:p.Ala419=
• NP_000081.2:p.Ala419=
• LRG_3t1:c.1257C>T
• LRG_3:g.24924C>T
• LRG_3p1:p.Ala419=
• NC_000002.11:g.189859022C>T
• NM_000090.3:c.1257C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs41272837

NCBI 1000 Genomes Browser:

rs41272837

Molecular consequence:

• NM_000090.4:c.1257C>T - synonymous variant - [Sequence Ontology: SO:0001819]