ClinVar

NM_001367561.1(DOCK7):c.1380G>A (p.Thr460=)

Gene:

DOCK7:dedicator of cytokinesis 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.3

Genomic location:

• Chr1: 62625304 (on Assembly GRCh38)
• Chr1: 63090975 (on Assembly GRCh37)

Preferred name:

NM_001367561.1(DOCK7):c.1380G>A (p.Thr460=)

HGVS:

• NC_000001.11:g.62625304C>T
• NG_033073.2:g.68065G>A
• NM_001271999.2:c.1380G>A
• NM_001272000.2:c.1380G>A
• NM_001272001.2:c.1380G>A
• NM_001272002.2:c.1380G>A
• NM_001330614.2:c.1380G>A
• NM_001367561.1:c.1380G>AMANE SELECT
• NM_033407.4:c.1380G>A
• NP_001258928.1:p.Thr460=
• NP_001258928.1:p.Thr460=
• NP_001258929.1:p.Thr460=
• NP_001258930.1:p.Thr460=
• NP_001258931.1:p.Thr460=
• NP_001317543.1:p.Thr460=
• NP_001354490.1:p.Thr460=
• NP_212132.2:p.Thr460=
• NC_000001.10:g.63090975C>T
• NM_001271999.1:c.1380G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs140097849

NCBI 1000 Genomes Browser:

rs140097849

Molecular consequence:

• NM_001271999.2:c.1380G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001272000.2:c.1380G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001272001.2:c.1380G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001272002.2:c.1380G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330614.2:c.1380G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001367561.1:c.1380G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033407.4:c.1380G>A - synonymous variant - [Sequence Ontology: SO:0001819]