ClinVar

NM_004360.5(CDH1):c.*3G>C

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68833502 (on Assembly GRCh38)
• Chr16: 68867405 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.*3G>C

HGVS:

• NC_000016.10:g.68833502G>C
• NG_008021.1:g.101211G>C
• NM_001317184.2:c.*3G>C
• NM_001317185.2:c.*3G>C
• NM_001317186.2:c.*3G>C
• NM_004360.5:c.*3G>CMANE SELECT
• LRG_301t1:c.*3G>C
• LRG_301:g.101211G>C
• NC_000016.9:g.68867405G>C
• NM_004360.3:c.*3G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs753123245

NCBI 1000 Genomes Browser:

rs753123245

Molecular consequence:

• NM_001317184.2:c.*3G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001317185.2:c.*3G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001317186.2:c.*3G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_004360.5:c.*3G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]