ClinVar

NM_004360.5(CDH1):c.1711+5G>A

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68819430 (on Assembly GRCh38)
• Chr16: 68853333 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.1711+5G>A

HGVS:

• NC_000016.10:g.68819430G>A
• NG_008021.1:g.87139G>A
• NM_001317184.2:c.1528+5G>A
• NM_001317185.2:c.163+5G>A
• NM_001317186.2:c.-254-2571G>A
• NM_004360.5:c.1711+5G>AMANE SELECT
• LRG_301t1:c.1711+5G>A
• LRG_301:g.87139G>A
• NC_000016.9:g.68853333G>A
• NM_004360.3:c.1711+5G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1131690818

NCBI 1000 Genomes Browser:

rs1131690818

Molecular consequence:

• NM_001317184.2:c.1528+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001317185.2:c.163+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001317186.2:c.-254-2571G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_004360.5:c.1711+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1