ClinVar

NM_004360.5(CDH1):c.3G>A (p.Met1Ile)

Gene:

CDH1:cadherin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q22.1

Genomic location:

• Chr16: 68737418 (on Assembly GRCh38)
• Chr16: 68771321 (on Assembly GRCh37)

Preferred name:

NM_004360.5(CDH1):c.3G>A (p.Met1Ile)

HGVS:

• NC_000016.10:g.68737418G>A
• NG_008021.1:g.5127G>A
• NM_001317184.2:c.3G>A
• NM_001317185.2:c.-1613G>A
• NM_001317186.2:c.-1817G>A
• NM_004360.5:c.3G>AMANE SELECT
• NP_001304113.1:p.Met1Ile
• NP_004351.1:p.Met1Ile
• LRG_301t1:c.3G>A
• LRG_301:g.5127G>A
• NC_000016.9:g.68771321G>A
• NC_000016.9:g.68771321G>A
• NM_004360.3:c.3G>A
• NM_004360.4:c.3G>A
• NM_004360.4(CDH1):c.3G>A

This HGVS expression did not pass validation

Protein change:

M1I

Links:

dbSNP: rs878854691

NCBI 1000 Genomes Browser:

rs878854691

Molecular consequence:

• NM_001317185.2:c.-1613G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317186.2:c.-1817G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001317184.2:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_004360.5:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001317184.2:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004360.5:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]