ClinVar

NM_024422.6(DSC2):c.325A>C (p.Ile109Leu)

Gene:

DSC2:desmocollin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q12.1

Genomic location:

• Chr18: 31092130 (on Assembly GRCh38)
• Chr18: 28672093 (on Assembly GRCh37)

Preferred name:

NM_024422.6(DSC2):c.325A>C (p.Ile109Leu)

HGVS:

• NC_000018.10:g.31092130T>G
• NG_008208.2:g.15296A>C
• NM_004949.5:c.325A>C
• NM_024422.6:c.325A>CMANE SELECT
• NP_004940.1:p.Ile109Leu
• NP_077740.1:p.Ile109Leu
• LRG_400:g.15296A>C
• NC_000018.9:g.28672093T>G
• NM_024422.3:c.325A>C

This HGVS expression did not pass validation

Protein change:

I109L

Links:

dbSNP: rs1256252633

NCBI 1000 Genomes Browser:

rs1256252633

Molecular consequence:

• NM_004949.5:c.325A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_024422.6:c.325A>C - missense variant - [Sequence Ontology: SO:0001583]