ClinVar

NM_004360.5(CDH1):c.2551T>C (p.Ser851Pro)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68833401 (on Assembly GRCh38)
• Chr16: 68867304 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2551T>C (p.Ser851Pro)

HGVS:

• NC_000016.10:g.68833401T>C
• NG_008021.1:g.101110T>C
• NM_001317184.2:c.2368T>C
• NM_001317185.2:c.1003T>C
• NM_001317186.2:c.586T>C
• NM_004360.5:c.2551T>CMANE SELECT
• NP_001304113.1:p.Ser790Pro
• NP_001304114.1:p.Ser335Pro
• NP_001304115.1:p.Ser196Pro
• NP_004351.1:p.Ser851Pro
• LRG_301t1:c.2551T>C
• LRG_301:g.101110T>C
• NC_000016.9:g.68867304T>C
• NM_004360.3:c.2551T>C

This HGVS expression did not pass validation

Protein change:

S196P

Links:

dbSNP: rs2152144059

NCBI 1000 Genomes Browser:

rs2152144059

Molecular consequence:

• NM_001317184.2:c.2368T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317185.2:c.1003T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317186.2:c.586T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_004360.5:c.2551T>C - missense variant - [Sequence Ontology: SO:0001583]