ClinVar

NM_004360.5(CDH1):c.1711+6G>T

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68819431 (on Assembly GRCh38)
• Chr16: 68853334 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.1711+6G>T

HGVS:

• NC_000016.10:g.68819431G>T
• NG_008021.1:g.87140G>T
• NM_001317184.2:c.1528+6G>T
• NM_001317185.2:c.163+6G>T
• NM_001317186.2:c.-254-2570G>T
• NM_004360.5:c.1711+6G>TMANE SELECT
• LRG_301t1:c.1711+6G>T
• LRG_301:g.87140G>T
• NC_000016.9:g.68853334G>T
• NM_004360.3:c.1711+6G>T
• NM_004360.4:c.1711+6G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1555516597

NCBI 1000 Genomes Browser:

rs1555516597

Molecular consequence:

• NM_001317184.2:c.1528+6G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001317185.2:c.163+6G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001317186.2:c.-254-2570G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_004360.5:c.1711+6G>T - intron variant - [Sequence Ontology: SO:0001627]