ClinVar

NM_004360.5(CDH1):c.195G>A (p.Arg65=)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68801701 (on Assembly GRCh38)
• Chr16: 68835604 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.195G>A (p.Arg65=)

HGVS:

• NC_000016.10:g.68801701G>A
• NG_008021.1:g.69410G>A
• NM_001317184.2:c.195G>A
• NM_001317185.2:c.-1421G>A
• NM_001317186.2:c.-1625G>A
• NM_004360.5:c.195G>AMANE SELECT
• NP_001304113.1:p.Arg65=
• NP_004351.1:p.Arg65=
• LRG_301t1:c.195G>A
• LRG_301:g.69410G>A
• NC_000016.9:g.68835604G>A
• NM_004360.3:c.195G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1057522751

NCBI 1000 Genomes Browser:

rs1057522751

Molecular consequence:

• NM_001317185.2:c.-1421G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317186.2:c.-1625G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317184.2:c.195G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004360.5:c.195G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1