ClinVar

NM_004360.5(CDH1):c.244G>A (p.Val82Met)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68801750 (on Assembly GRCh38)
• Chr16: 68835653 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.244G>A (p.Val82Met)

HGVS:

• NC_000016.10:g.68801750G>A
• NG_008021.1:g.69459G>A
• NM_001317184.2:c.244G>A
• NM_001317185.2:c.-1372G>A
• NM_001317186.2:c.-1576G>A
• NM_004360.5:c.244G>AMANE SELECT
• NP_001304113.1:p.Val82Met
• NP_004351.1:p.Val82Met
• LRG_301t1:c.244G>A
• LRG_301:g.69459G>A
• NC_000016.9:g.68835653G>A
• NM_004360.3:c.244G>A
• NM_004360.4:c.244G>A

This HGVS expression did not pass validation

Protein change:

V82M

Links:

dbSNP: rs1064793867

NCBI 1000 Genomes Browser:

rs1064793867

Molecular consequence:

• NM_001317185.2:c.-1372G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317186.2:c.-1576G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317184.2:c.244G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004360.5:c.244G>A - missense variant - [Sequence Ontology: SO:0001583]