ClinVar

NM_001079520.2(DACT1):c.1820G>A (p.Gly607Asp)

Gene:

DACT1:dishevelled binding antagonist of beta catenin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q23.1

Genomic location:

• Chr14: 58646554 (on Assembly GRCh38)
• Chr14: 59113272 (on Assembly GRCh37)

Preferred name:

NM_001079520.2(DACT1):c.1820G>A (p.Gly607Asp)

HGVS:

• NC_000014.9:g.58646554G>A
• NG_032025.1:g.17487G>A
• NM_001079520.2:c.1820G>AMANE SELECT
• NM_016651.5:c.1931G>A
• NM_016651.6:c.1931G>A
• NP_001072988.1:p.Gly607Asp
• NP_057735.2:p.Gly644Asp
• NC_000014.8:g.59113272G>A
• NR_046093.2:n.1600G>A
• NR_046095.1:n.1901G>A
• NR_165650.1:n.1711G>A
• NR_165651.1:n.1980G>A
• NR_165652.1:n.2012G>A

This HGVS expression did not pass validation

Protein change:

G607D

Links:

dbSNP: rs754474567

NCBI 1000 Genomes Browser:

rs754474567

Molecular consequence:

• NM_001079520.2:c.1820G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_016651.6:c.1931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_046093.2:n.1600G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_046095.1:n.1901G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_165650.1:n.1711G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_165651.1:n.1980G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_165652.1:n.2012G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1