ClinVar

NM_004360.5(CDH1):c.1239C>T (p.Tyr413=)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68813414 (on Assembly GRCh38)
• Chr16: 68847317 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.1239C>T (p.Tyr413=)

HGVS:

• NC_000016.10:g.68813414C>T
• NG_008021.1:g.81123C>T
• NM_001317184.2:c.1137+1151C>T
• NM_001317185.2:c.-377C>T
• NM_001317186.2:c.-581C>T
• NM_004360.5:c.1239C>TMANE SELECT
• NP_004351.1:p.Tyr413=
• LRG_301t1:c.1239C>T
• LRG_301:g.81123C>T
• NC_000016.9:g.68847317C>T
• NM_004360.3:c.1239C>T
• NM_004360.4:c.1239C>T
• p.Y413Y

This HGVS expression did not pass validation

Links:

dbSNP: rs36074916

NCBI 1000 Genomes Browser:

rs36074916

Molecular consequence:

• NM_001317185.2:c.-377C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317186.2:c.-581C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317184.2:c.1137+1151C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_004360.5:c.1239C>T - synonymous variant - [Sequence Ontology: SO:0001819]