ClinVar

NM_004360.5(CDH1):c.221G>T (p.Arg74Leu)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68801727 (on Assembly GRCh38)
• Chr16: 68835630 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.221G>T (p.Arg74Leu)

HGVS:

• NC_000016.10:g.68801727G>T
• NG_008021.1:g.69436G>T
• NM_001317184.2:c.221G>T
• NM_001317185.2:c.-1395G>T
• NM_001317186.2:c.-1599G>T
• NM_004360.5:c.221G>TMANE SELECT
• NP_001304113.1:p.Arg74Leu
• NP_004351.1:p.Arg74Leu
• LRG_301t1:c.221G>T
• LRG_301:g.69436G>T
• NC_000016.9:g.68835630G>T
• NM_004360.3:c.221G>T

This HGVS expression did not pass validation

Protein change:

R74L

Links:

dbSNP: rs761562625

NCBI 1000 Genomes Browser:

rs761562625

Molecular consequence:

• NM_001317185.2:c.-1395G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317186.2:c.-1599G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317184.2:c.221G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004360.5:c.221G>T - missense variant - [Sequence Ontology: SO:0001583]