ClinVar

NM_004360.5(CDH1):c.2316G>T (p.Leu772=)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68829674 (on Assembly GRCh38)
• Chr16: 68863577 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2316G>T (p.Leu772=)

HGVS:

• NC_000016.10:g.68829674G>T
• NG_008021.1:g.97383G>T
• NM_001317184.2:c.2133G>T
• NM_001317185.2:c.768G>T
• NM_001317186.2:c.351G>T
• NM_004360.5:c.2316G>TMANE SELECT
• NP_001304113.1:p.Leu711=
• NP_001304114.1:p.Leu256=
• NP_001304115.1:p.Leu117=
• NP_004351.1:p.Leu772=
• LRG_301t1:c.2316G>T
• LRG_301:g.97383G>T
• NC_000016.9:g.68863577G>T
• NM_004360.3:c.2316G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1057523941

NCBI 1000 Genomes Browser:

rs1057523941

Molecular consequence:

• NM_001317184.2:c.2133G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001317185.2:c.768G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001317186.2:c.351G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004360.5:c.2316G>T - synonymous variant - [Sequence Ontology: SO:0001819]