ClinVar

NM_024422.6(DSC2):c.1889-291T>C

Gene:

DSC2:desmocollin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q12.1

Genomic location:

• Chr18: 31072132 (on Assembly GRCh38)
• Chr18: 28652098 (on Assembly GRCh37)

Preferred name:

NM_024422.6(DSC2):c.1889-291T>C

HGVS:

• NC_000018.10:g.31072132A>G
• NG_008208.2:g.35294T>C
• NM_004949.5:c.1889-291T>C
• NM_024422.6:c.1889-291T>CMANE SELECT
• LRG_400:g.35294T>C
• NC_000018.9:g.28652098A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs78561044

NCBI 1000 Genomes Browser:

rs78561044

Molecular consequence:

• NM_004949.5:c.1889-291T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_024422.6:c.1889-291T>C - intron variant - [Sequence Ontology: SO:0001627]