ClinVar

NM_004360.5(CDH1):c.240T>C (p.Asp80=)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68801746 (on Assembly GRCh38)
• Chr16: 68835649 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.240T>C (p.Asp80=)

HGVS:

• NC_000016.10:g.68801746T>C
• NG_008021.1:g.69455T>C
• NM_001317184.2:c.240T>C
• NM_001317185.2:c.-1376T>C
• NM_001317186.2:c.-1580T>C
• NM_004360.5:c.240T>CMANE SELECT
• NP_001304113.1:p.Asp80=
• NP_004351.1:p.Asp80=
• LRG_301t1:c.240T>C
• LRG_301:g.69455T>C
• NC_000016.9:g.68835649T>C
• NM_004360.3:c.240T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs760062352

NCBI 1000 Genomes Browser:

rs760062352

Molecular consequence:

• NM_001317185.2:c.-1376T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317186.2:c.-1580T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317184.2:c.240T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004360.5:c.240T>C - synonymous variant - [Sequence Ontology: SO:0001819]