ClinVar

NM_001943.5(DSG2):c.-11G>A

Genes:

LOC130062340:ATAC-STARR-seq lymphoblastoid silent region 9384 [Gene]
DSG2:desmoglein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q12.1

Genomic location:

• Chr18: 31498241 (on Assembly GRCh38)
• Chr18: 29078204 (on Assembly GRCh37)

Preferred name:

NM_001943.5(DSG2):c.-11G>A

HGVS:

• NC_000018.10:g.31498241G>A
• NG_007072.3:g.5000G>A
• NM_001943.5:c.-11G>AMANE SELECT
• LRG_397t1:c.-11G>A
• LRG_397:g.5000G>A
• NC_000018.9:g.29078204G>A
• NM_001943.3:c.-11G>A
• NM_001943.4:c.-11G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs727504450

NCBI 1000 Genomes Browser:

rs727504450

Molecular consequence:

• NM_001943.5:c.-11G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Observations:

1