ClinVar

NM_004360.5(CDH1):c.2339C>T (p.Pro780Leu)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68829697 (on Assembly GRCh38)
• Chr16: 68863600 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2339C>T (p.Pro780Leu)

HGVS:

• NC_000016.10:g.68829697C>T
• NG_008021.1:g.97406C>T
• NM_001317184.2:c.2156C>T
• NM_001317185.2:c.791C>T
• NM_001317186.2:c.374C>T
• NM_004360.5:c.2339C>TMANE SELECT
• NP_001304113.1:p.Pro719Leu
• NP_001304114.1:p.Pro264Leu
• NP_001304115.1:p.Pro125Leu
• NP_004351.1:p.Pro780Leu
• LRG_301t1:c.2339C>T
• LRG_301:g.97406C>T
• NC_000016.9:g.68863600C>T
• NM_004360.3:c.2339C>T

This HGVS expression did not pass validation

Protein change:

P125L

Links:

dbSNP: rs1555517841

NCBI 1000 Genomes Browser:

rs1555517841

Molecular consequence:

• NM_001317184.2:c.2156C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317185.2:c.791C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317186.2:c.374C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004360.5:c.2339C>T - missense variant - [Sequence Ontology: SO:0001583]