ClinVar

NM_004360.5(CDH1):c.378G>A (p.Pro126=)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68801884 (on Assembly GRCh38)
• Chr16: 68835787 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.378G>A (p.Pro126=)

HGVS:

• NC_000016.10:g.68801884G>A
• NG_008021.1:g.69593G>A
• NM_001317184.2:c.378G>A
• NM_001317185.2:c.-1238G>A
• NM_001317186.2:c.-1442G>A
• NM_004360.5:c.378G>AMANE SELECT
• NP_001304113.1:p.Pro126=
• NP_004351.1:p.Pro126=
• LRG_301t1:c.378G>A
• LRG_301:g.69593G>A
• NC_000016.9:g.68835787G>A
• NM_004360.3:c.378G>A
• NM_004360.4:c.378G>A
• p.P126P

This HGVS expression did not pass validation

Links:

dbSNP: rs786201504

NCBI 1000 Genomes Browser:

rs786201504

Molecular consequence:

• NM_001317185.2:c.-1238G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317186.2:c.-1442G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317184.2:c.378G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004360.5:c.378G>A - synonymous variant - [Sequence Ontology: SO:0001819]