ClinVar

NM_004360.5(CDH1):c.147C>T (p.Gly49=)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68738395 (on Assembly GRCh38)
• Chr16: 68772298 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.147C>T (p.Gly49=)

HGVS:

• NC_000016.10:g.68738395C>T
• NG_008021.1:g.6104C>T
• NM_001317184.2:c.147C>T
• NM_001317185.2:c.-1469C>T
• NM_001317186.2:c.-1673C>T
• NM_004360.5:c.147C>TMANE SELECT
• NP_001304113.1:p.Gly49=
• NP_004351.1:p.Gly49=
• LRG_301t1:c.147C>T
• LRG_301:g.6104C>T
• NC_000016.9:g.68772298C>T
• NM_004360.3:c.147C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1057521592

NCBI 1000 Genomes Browser:

rs1057521592

Molecular consequence:

• NM_001317185.2:c.-1469C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317186.2:c.-1673C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317184.2:c.147C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004360.5:c.147C>T - synonymous variant - [Sequence Ontology: SO:0001819]