ClinVar

NM_004360.5(CDH1):c.2296-11T>A

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68829643 (on Assembly GRCh38)
• Chr16: 68863546 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.2296-11T>A

HGVS:

• NC_000016.10:g.68829643T>A
• NG_008021.1:g.97352T>A
• NM_001317184.2:c.2113-11T>A
• NM_001317185.2:c.748-11T>A
• NM_001317186.2:c.331-11T>A
• NM_004360.5:c.2296-11T>AMANE SELECT
• LRG_301t1:c.2296-11T>A
• LRG_301:g.97352T>A
• NC_000016.9:g.68863546T>A
• NM_004360.3:c.2296-11T>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1057523636

NCBI 1000 Genomes Browser:

rs1057523636

Molecular consequence:

• NM_001317184.2:c.2113-11T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001317185.2:c.748-11T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001317186.2:c.331-11T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_004360.5:c.2296-11T>A - intron variant - [Sequence Ontology: SO:0001627]