ClinVar

NM_004360.5(CDH1):c.2493C>G (p.Leu831=)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68833343 (on Assembly GRCh38)
• Chr16: 68867246 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2493C>G (p.Leu831=)

HGVS:

• NC_000016.10:g.68833343C>G
• NG_008021.1:g.101052C>G
• NM_001317184.2:c.2310C>G
• NM_001317185.2:c.945C>G
• NM_001317186.2:c.528C>G
• NM_004360.5:c.2493C>GMANE SELECT
• NP_001304113.1:p.Leu770=
• NP_001304114.1:p.Leu315=
• NP_001304115.1:p.Leu176=
• NP_004351.1:p.Leu831=
• LRG_301t1:c.2493C>G
• LRG_301:g.101052C>G
• NC_000016.9:g.68867246C>G
• NM_004360.3:c.2493C>G
• NM_004360.4:c.2493C>G

This HGVS expression did not pass validation

Links:

dbSNP: rs779267700

NCBI 1000 Genomes Browser:

rs779267700

Molecular consequence:

• NM_001317184.2:c.2310C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001317185.2:c.945C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001317186.2:c.528C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004360.5:c.2493C>G - synonymous variant - [Sequence Ontology: SO:0001819]