ClinVar

NM_024422.6(DSC2):c.857G>T (p.Gly286Val)

Gene:

DSC2:desmocollin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q12.1

Genomic location:

• Chr18: 31086661 (on Assembly GRCh38)
• Chr18: 28666624 (on Assembly GRCh37)

Preferred name:

NM_024422.6(DSC2):c.857G>T (p.Gly286Val)

Other names:

p.G286V:GGG>GTG

HGVS:

• NC_000018.10:g.31086661C>A
• NG_008208.2:g.20765G>T
• NM_004949.5:c.857G>T
• NM_024422.6:c.857G>T
• NP_004940.1:p.Gly286Val
• NP_077740.1:p.Gly286Val
• LRG_400:g.20765G>T
• NC_000018.9:g.28666624C>A
• NM_024422.3:c.857G>T
• NM_024422.4:c.857G>T

This HGVS expression did not pass validation

Protein change:

G286V

Links:

dbSNP: rs199682735

NCBI 1000 Genomes Browser:

rs199682735

Molecular consequence:

• NM_004949.5:c.857G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_024422.6:c.857G>T - missense variant - [Sequence Ontology: SO:0001583]