ClinVar

NM_004360.5(CDH1):c.390C>T (p.Ala130=)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68808426 (on Assembly GRCh38)
• Chr16: 68842329 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.390C>T (p.Ala130=)

HGVS:

• NC_000016.10:g.68808426C>T
• NG_008021.1:g.76135C>T
• NM_001317184.2:c.390C>T
• NM_001317185.2:c.-1226C>T
• NM_001317186.2:c.-1430C>T
• NM_004360.5:c.390C>TMANE SELECT
• NP_001304113.1:p.Ala130=
• NP_004351.1:p.Ala130=
• LRG_301:g.76135C>T
• NC_000016.9:g.68842329C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1555515177

NCBI 1000 Genomes Browser:

rs1555515177

Molecular consequence:

• NM_001317185.2:c.-1226C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317186.2:c.-1430C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317184.2:c.390C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004360.5:c.390C>T - synonymous variant - [Sequence Ontology: SO:0001819]