ClinVar

NM_001849.4(COL6A2):c.2591C>T (p.Thr864Met)

Gene:

COL6A2:collagen type VI alpha 2 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 46132083 (on Assembly GRCh38)
• Chr21: 47551997 (on Assembly GRCh37)

Preferred name:

NM_001849.4(COL6A2):c.2591C>T (p.Thr864Met)

HGVS:

• NC_000021.9:g.46132083C>T
• NG_008675.1:g.38965C>T
• NM_001849.4:c.2591C>TMANE SELECT
• NP_001840.3:p.Thr864Met
• NP_001840.3:p.Thr864Met
• LRG_476t1:c.2591C>T
• LRG_476:g.38965C>T
• LRG_476p1:p.Thr864Met
• NC_000021.8:g.47551997C>T
• NM_001849.3:c.2591C>T

This HGVS expression did not pass validation

Protein change:

T864M

Links:

dbSNP: rs200488881

NCBI 1000 Genomes Browser:

rs200488881

Molecular consequence:

• NM_001849.4:c.2591C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1