ClinVar

NM_004360.5(CDH1):c.164-45T>C

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68801625 (on Assembly GRCh38)
• Chr16: 68835528 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.164-45T>C

HGVS:

• NC_000016.10:g.68801625T>C
• NG_008021.1:g.69334T>C
• NM_001317184.2:c.164-45T>C
• NM_001317185.2:c.-1452-45T>C
• NM_001317186.2:c.-1656-45T>C
• NM_004360.5:c.164-45T>CMANE SELECT
• LRG_301:g.69334T>C
• NC_000016.9:g.68835528T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs189978842

NCBI 1000 Genomes Browser:

rs189978842

Molecular consequence:

• NM_001317184.2:c.164-45T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001317185.2:c.-1452-45T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001317186.2:c.-1656-45T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_004360.5:c.164-45T>C - intron variant - [Sequence Ontology: SO:0001627]