ClinVar

NM_004360.5(CDH1):c.364C>T (p.His122Tyr)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68801870 (on Assembly GRCh38)
• Chr16: 68835773 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.364C>T (p.His122Tyr)

HGVS:

• NC_000016.10:g.68801870C>T
• NG_008021.1:g.69579C>T
• NM_001317184.2:c.364C>T
• NM_001317185.2:c.-1252C>T
• NM_001317186.2:c.-1456C>T
• NM_004360.5:c.364C>TMANE SELECT
• NP_001304113.1:p.His122Tyr
• NP_004351.1:p.His122Tyr
• LRG_301t1:c.364C>T
• LRG_301:g.69579C>T
• NC_000016.9:g.68835773C>T
• NM_004360.3:c.364C>T

This HGVS expression did not pass validation

Protein change:

H122Y

Links:

dbSNP: rs528816701

NCBI 1000 Genomes Browser:

rs528816701

Molecular consequence:

• NM_001317185.2:c.-1252C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317186.2:c.-1456C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317184.2:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004360.5:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]