ClinVar

NM_203447.4(DOCK8):c.5962-82_5962-79del

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

9p24.3

Genomic location:

• Chr9: 451924 - 451927 (on Assembly GRCh38)
• Chr9: 451924 - 451927 (on Assembly GRCh37)

Preferred name:

NM_203447.4(DOCK8):c.5962-82_5962-79del

HGVS:

• NC_000009.12:g.451925ATGT[1]
• NG_017007.1:g.242061ATGT[1]
• NM_001190458.2:c.5662-82_5662-79del
• NM_001193536.2:c.5758-82_5758-79del
• NM_203447.4:c.5962-82_5962-79delMANE SELECT
• LRG_196:g.242061ATGT[1]
• NC_000009.11:g.451925ATGT[1]

This HGVS expression did not pass validation

Links:

dbSNP: rs371042110

NCBI 1000 Genomes Browser:

rs371042110

Molecular consequence:

• NM_001190458.2:c.5662-82_5662-79del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001193536.2:c.5758-82_5758-79del - intron variant - [Sequence Ontology: SO:0001627]
• NM_203447.4:c.5962-82_5962-79del - intron variant - [Sequence Ontology: SO:0001627]