ClinVar

NM_004360.5(CDH1):c.2314C>T (p.Leu772=)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68829672 (on Assembly GRCh38)
• Chr16: 68863575 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2314C>T (p.Leu772=)

HGVS:

• NC_000016.10:g.68829672C>T
• NG_008021.1:g.97381C>T
• NM_001317184.2:c.2131C>T
• NM_001317185.2:c.766C>T
• NM_001317186.2:c.349C>T
• NM_004360.5:c.2314C>TMANE SELECT
• NP_001304113.1:p.Leu711=
• NP_001304114.1:p.Leu256=
• NP_001304115.1:p.Leu117=
• NP_004351.1:p.Leu772=
• NP_004351.1:p.Leu772=
• LRG_301t1:c.2314C>T
• LRG_301:g.97381C>T
• LRG_301p1:p.Leu772=
• NC_000016.9:g.68863575C>T
• NM_004360.3:c.2314C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001317184.2:c.2131C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001317185.2:c.766C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001317186.2:c.349C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004360.5:c.2314C>T - synonymous variant - [Sequence Ontology: SO:0001819]