ClinVar

NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68833324 (on Assembly GRCh38)
• Chr16: 68867227 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu)

HGVS:

• NC_000016.10:g.68833324C>T
• NG_008021.1:g.101033C>T
• NM_001317184.2:c.2291C>T
• NM_001317185.2:c.926C>T
• NM_001317186.2:c.509C>T
• NM_004360.5:c.2474C>TMANE SELECT
• NP_001304113.1:p.Pro764Leu
• NP_001304114.1:p.Pro309Leu
• NP_001304115.1:p.Pro170Leu
• NP_004351.1:p.Pro825Leu
• LRG_301t1:c.2474C>T
• LRG_301:g.101033C>T
• NC_000016.9:g.68867227C>T
• NM_004360.3:c.2474C>T
• NM_004360.4:c.2474C>T
• p.P825L

This HGVS expression did not pass validation

Protein change:

P170L

Links:

dbSNP: rs587781312

NCBI 1000 Genomes Browser:

rs587781312

Molecular consequence:

• NM_001317184.2:c.2291C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317185.2:c.926C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317186.2:c.509C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004360.5:c.2474C>T - missense variant - [Sequence Ontology: SO:0001583]