ClinVar

NM_004360.5(CDH1):c.-49G>T

Genes:

LOC130059290:ATAC-STARR-seq lymphoblastoid silent region 7650 [Gene]
CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68737367 (on Assembly GRCh38)
• Chr16: 68771270 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.-49G>T

HGVS:

• NC_000016.10:g.68737367G>T
• NG_008021.1:g.5076G>T
• NM_001317184.2:c.-49G>T
• NM_001317185.2:c.-1664G>T
• NM_001317186.2:c.-1868G>T
• NM_004360.5:c.-49G>TMANE SELECT
• LRG_301t1:c.-49G>T
• LRG_301:g.5076G>T
• NC_000016.9:g.68771270G>T
• NM_004360.3:c.-49G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs564350060

NCBI 1000 Genomes Browser:

rs564350060

Molecular consequence:

• NM_001317184.2:c.-49G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317185.2:c.-1664G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317186.2:c.-1868G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_004360.5:c.-49G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]