ClinVar

NM_004360.5(CDH1):c.48+6C>T

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68737469 (on Assembly GRCh38)
• Chr16: 68771372 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.48+6C>T

HGVS:

• NC_000016.10:g.68737469C>T
• NG_008021.1:g.5178C>T
• NM_001317184.2:c.48+6C>T
• NM_001317185.2:c.-1568+6C>T
• NM_001317186.2:c.-1772+6C>T
• NM_004360.4(CDH1):c.48+6C>T
• NM_004360.5:c.48+6C>TMANE SELECT
• LRG_301t1:c.48+6C>T
• LRG_301:g.5178C>T
• NC_000016.9:g.68771372C>T
• NM_004360.3:c.48+6C>T
• NM_004360.4(CDH1):c.48+6C>T
• NM_004360.4:c.48+6C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs3743674

NCBI 1000 Genomes Browser:

rs3743674

Molecular consequence:

• NM_001317184.2:c.48+6C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001317185.2:c.-1568+6C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001317186.2:c.-1772+6C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_004360.5:c.48+6C>T - intron variant - [Sequence Ontology: SO:0001627]