ClinVar

NM_004946.3(DOCK2):c.286T>C (p.Trp96Arg)

Gene:

DOCK2:dedicator of cytokinesis 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.1

Genomic location:

• Chr5: 169671139 (on Assembly GRCh38)
• Chr5: 169098143 (on Assembly GRCh37)

Preferred name:

NM_004946.3(DOCK2):c.286T>C (p.Trp96Arg)

HGVS:

• NC_000005.10:g.169671139T>C
• NG_051800.1:g.38893T>C
• NM_004946.3:c.286T>CMANE SELECT
• NP_004937.1:p.Trp96Arg
• LRG_1227t1:c.286T>C
• LRG_1227:g.38893T>C
• LRG_1227p1:p.Trp96Arg
• NC_000005.9:g.169098143T>C
• NM_004946.2:c.286T>C
• NR_156756.1:n.338T>C

This HGVS expression did not pass validation

Protein change:

W96R

Links:

dbSNP: rs370949354

NCBI 1000 Genomes Browser:

rs370949354

Molecular consequence:

• NM_004946.3:c.286T>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_156756.1:n.338T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]