ClinVar

NM_004360.5(CDH1):c.2531_2533delinsTTT (p.Ser844Ile)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68833381 - 68833383 (on Assembly GRCh38)
• Chr16: 68867284 - 68867286 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2531_2533delinsTTT (p.Ser844Ile)

HGVS:

• NC_000016.10:g.68833381_68833383delinsTTT
• NG_008021.1:g.101090_101092delinsTTT
• NM_001317184.2:c.2348_2350delinsTTT
• NM_001317185.2:c.983_985delinsTTT
• NM_001317186.2:c.566_568delinsTTT
• NM_004360.5:c.2531_2533delinsTTTMANE SELECT
• NP_001304113.1:p.Ser783Ile
• NP_001304114.1:p.Ser328Ile
• NP_001304115.1:p.Ser189Ile
• NP_004351.1:p.Ser844Ile
• LRG_301t1:c.2531_2533delinsTTT
• LRG_301:g.101090_101092delinsTTT
• NC_000016.9:g.68867284_68867286delinsTTT
• NM_004360.3:c.2531_2533delGTCinsTTT
• NM_004360.3:c.2531_2533delinsTTT

This HGVS expression did not pass validation

Protein change:

S189I

Links:

dbSNP: rs2152144007

NCBI 1000 Genomes Browser:

rs2152144007

Molecular consequence:

• NM_001317184.2:c.2348_2350delinsTTT - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317185.2:c.983_985delinsTTT - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317186.2:c.566_568delinsTTT - missense variant - [Sequence Ontology: SO:0001583]
• NM_004360.5:c.2531_2533delinsTTT - missense variant - [Sequence Ontology: SO:0001583]