ClinVar

NM_004360.5(CDH1):c.45G>T (p.Leu15=)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68737460 (on Assembly GRCh38)
• Chr16: 68771363 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.45G>T (p.Leu15=)

HGVS:

• NC_000016.10:g.68737460G>T
• NG_008021.1:g.5169G>T
• NM_001317184.2:c.45G>T
• NM_001317185.2:c.-1571G>T
• NM_001317186.2:c.-1775G>T
• NM_004360.5:c.45G>TMANE SELECT
• NP_001304113.1:p.Leu15=
• NP_004351.1:p.Leu15=
• LRG_301:g.5169G>T
• NC_000016.9:g.68771363G>T
• NM_004360.4:c.45G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs746331438

NCBI 1000 Genomes Browser:

rs746331438

Molecular consequence:

• NM_001317185.2:c.-1571G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317186.2:c.-1775G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317184.2:c.45G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004360.5:c.45G>T - synonymous variant - [Sequence Ontology: SO:0001819]