ClinVar

NM_004360.5(CDH1):c.2490G>A (p.Leu830=)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68833340 (on Assembly GRCh38)
• Chr16: 68867243 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2490G>A (p.Leu830=)

HGVS:

• NC_000016.10:g.68833340G>A
• NG_008021.1:g.101049G>A
• NM_001317184.2:c.2307G>A
• NM_001317185.2:c.942G>A
• NM_001317186.2:c.525G>A
• NM_004360.5:c.2490G>AMANE SELECT
• NP_001304113.1:p.Leu769=
• NP_001304114.1:p.Leu314=
• NP_001304115.1:p.Leu175=
• NP_004351.1:p.Leu830=
• LRG_301t1:c.2490G>A
• LRG_301:g.101049G>A
• NC_000016.9:g.68867243G>A
• NM_004360.3:c.2490G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs754360330

NCBI 1000 Genomes Browser:

rs754360330

Molecular consequence:

• NM_001317184.2:c.2307G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001317185.2:c.942G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001317186.2:c.525G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004360.5:c.2490G>A - synonymous variant - [Sequence Ontology: SO:0001819]