ClinVar

NM_004370.6(COL12A1):c.9162C>T (p.Tyr3054=)

Gene:

COL12A1:collagen type XII alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q13

Genomic location:

• Chr6: 75087596 (on Assembly GRCh38)
• Chr6: 75797312 (on Assembly GRCh37)

Preferred name:

NM_004370.6(COL12A1):c.9162C>T (p.Tyr3054=)

HGVS:

• NC_000006.12:g.75087596G>A
• NG_042181.1:g.123312C>T
• NM_004370.6:c.9162C>TMANE SELECT
• NM_080645.3:c.5670C>T
• NP_004361.3:p.Tyr3054=
• NP_542376.2:p.Tyr1890=
• NC_000006.11:g.75797312G>A
• NM_004370.5:c.9162C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs35292916

NCBI 1000 Genomes Browser:

rs35292916

Molecular consequence:

• NM_004370.6:c.9162C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_080645.3:c.5670C>T - synonymous variant - [Sequence Ontology: SO:0001819]