ClinVar

NM_004360.5(CDH1):c.125C>T (p.Pro42Leu)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68738373 (on Assembly GRCh38)
• Chr16: 68772276 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.125C>T (p.Pro42Leu)

Other names:

NM_004360.5(CDH1):c.125C>T

HGVS:

• NC_000016.10:g.68738373C>T
• NG_008021.1:g.6082C>T
• NM_001317184.2:c.125C>T
• NM_001317185.2:c.-1491C>T
• NM_001317186.2:c.-1695C>T
• NM_004360.5:c.125C>TMANE SELECT
• NP_001304113.1:p.Pro42Leu
• NP_004351.1:p.Pro42Leu
• LRG_301t1:c.125C>T
• LRG_301:g.6082C>T
• NC_000016.9:g.68772276C>T
• NM_004360.3:c.125C>T
• NM_004360.4:c.125C>T
• p.Pro42Leu

This HGVS expression did not pass validation

Protein change:

P42L

Links:

dbSNP: rs876659333

NCBI 1000 Genomes Browser:

rs876659333

Molecular consequence:

• NM_001317185.2:c.-1491C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317186.2:c.-1695C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317184.2:c.125C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004360.5:c.125C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1