ClinVar

NM_001943.5(DSG2):c.3195T>C (p.Thr1065=)

Genes:

DSG2-AS1:DSG2 antisense RNA 1 [Gene - HGNC]
DSG2:desmoglein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q12.1

Genomic location:

• Chr18: 31546581 (on Assembly GRCh38)
• Chr18: 29126544 (on Assembly GRCh37)

Preferred name:

NM_001943.5(DSG2):c.3195T>C (p.Thr1065=)

HGVS:

• NC_000018.10:g.31546581T>C
• NG_007072.3:g.53340T>C
• NM_001943.5:c.3195T>CMANE SELECT
• NP_001934.2:p.Thr1065=
• LRG_397t1:c.3195T>C
• LRG_397:g.53340T>C
• NC_000018.9:g.29126544T>C
• NM_001943.3:c.3195T>C
• NM_001943.4:c.3195T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs544981484

NCBI 1000 Genomes Browser:

rs544981484

Molecular consequence:

• NM_001943.5:c.3195T>C - synonymous variant - [Sequence Ontology: SO:0001819]