ClinVar

NM_001264.5(CDSN):c.86-241C>G

Genes:

CDSN:corneodesmosin [Gene - OMIM - HGNC]
PSORS1C1:psoriasis susceptibility 1 candidate 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.33

Genomic location:

• Chr6: 31117770 (on Assembly GRCh38)
• Chr6: 31085547 (on Assembly GRCh37)

Preferred name:

NM_001264.5(CDSN):c.86-241C>G

HGVS:

• NC_000006.12:g.31117770G>C
• NG_012192.1:g.7677C>G
• NG_012192.2:g.7676C>G
• NG_021348.1:g.7940G>C
• NG_021348.2:g.7972G>C
• NM_001264.5:c.86-241C>GMANE SELECT
• NM_014068.3:c.-229+2879G>CMANE SELECT
• NC_000006.11:g.31085547G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs3130555

NCBI 1000 Genomes Browser:

rs3130555

Molecular consequence:

• NM_001264.5:c.86-241C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_014068.3:c.-229+2879G>C - intron variant - [Sequence Ontology: SO:0001627]