ClinVar

NM_203447.4(DOCK8):c.3460C>T (p.Arg1154Cys)

Gene:

DOCK8:dedicator of cytokinesis 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p24.3

Genomic location:

• Chr9: 406999 (on Assembly GRCh38)
• Chr9: 406999 (on Assembly GRCh37)

Preferred name:

NM_203447.4(DOCK8):c.3460C>T (p.Arg1154Cys)

HGVS:

• NC_000009.12:g.406999C>T
• NG_017007.1:g.197135C>T
• NM_001190458.2:c.3160C>T
• NM_001193536.2:c.3256C>T
• NM_203447.4:c.3460C>TMANE SELECT
• NP_001177387.1:p.Arg1054Cys
• NP_001180465.1:p.Arg1086Cys
• NP_982272.2:p.Arg1154Cys
• NP_982272.2:p.Arg1154Cys
• LRG_196t1:c.3460C>T
• LRG_196:g.197135C>T
• LRG_196p1:p.Arg1154Cys
• NC_000009.11:g.406999C>T
• NM_203447.3:c.3460C>T

This HGVS expression did not pass validation

Protein change:

R1054C

Links:

dbSNP: rs34390308

Molecular consequence:

• NM_001190458.2:c.3160C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001193536.2:c.3256C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_203447.4:c.3460C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

7