ClinVar

NM_004370.6(COL12A1):c.695C>T (p.Thr232Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q13

Genomic location:

• Chr6: 75189345 (on Assembly GRCh38)
• Chr6: 75899061 (on Assembly GRCh37)

Preferred name:

NM_004370.6(COL12A1):c.695C>T (p.Thr232Met)

HGVS:

• NC_000006.12:g.75189345G>A
• NG_042181.1:g.21563C>T
• NM_004370.6:c.695C>TMANE SELECT
• NM_080645.3:c.73+13375C>T
• NP_004361.3:p.Thr232Met
• NC_000006.11:g.75899061G>A
• NM_004370.5:c.695C>T

This HGVS expression did not pass validation

Protein change:

T232M

Links:

dbSNP: rs200443479

NCBI 1000 Genomes Browser:

rs200443479

Molecular consequence:

• NM_080645.3:c.73+13375C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_004370.6:c.695C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2