ClinVar

NM_004360.5(CDH1):c.1611G>A (p.Pro537=)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68819325 (on Assembly GRCh38)
• Chr16: 68853228 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.1611G>A (p.Pro537=)

HGVS:

• NC_000016.10:g.68819325G>A
• NG_008021.1:g.87034G>A
• NM_001317184.2:c.1428G>A
• NM_001317185.2:c.63G>A
• NM_001317186.2:c.-254-2676G>A
• NM_004360.5:c.1611G>AMANE SELECT
• NP_001304113.1:p.Pro476=
• NP_001304114.1:p.Pro21=
• NP_004351.1:p.Pro537=
• LRG_301t1:c.1611G>A
• LRG_301:g.87034G>A
• NC_000016.9:g.68853228G>A
• NM_004360.3:c.1611G>A
• NM_004360.4:c.1611G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1060504173

NCBI 1000 Genomes Browser:

rs1060504173

Molecular consequence:

• NM_001317186.2:c.-254-2676G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001317184.2:c.1428G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001317185.2:c.63G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004360.5:c.1611G>A - synonymous variant - [Sequence Ontology: SO:0001819]