NM_001195248.2(APTX):c.*851_*852delRat Genome Database

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Variant : CV318388 (NM_001195248.2(APTX):c.*851_*852del) Homo sapiens

Symbol: CV318388
Name: NM_001195248.2(APTX):c.*851_*852del
RGD ID: 11605013
Condition: Ataxia with Oculomotor Apraxia [RCV000369506]|Coenzyme Q10 deficiency, Oculomotor Apraxia Type [RCV000314782]
Clinical Significance: likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: APTX  
Variant Type: deletion (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_001368999.1:c.*1037_*1038del
NM_001369000.1:c.*851_*852del
NG_012821.1:g.33982_33983del
NM_001195250.2:c.*851_*852del
NM_001195252.2:c.*851_*852del
NM_001195254.1:c.*851_*852del
NM_001368996.1:c.*851_*852del
NM_001368997.1:c.*851_*852del
NM_001368998.1:c.*851_*852del
NR_160924.1:n.1890_1891del
NM_001195251.1:c.*1037_*1038del
NM_001369006.1:c.*1037_*1038del
NM_175069.3:c.*1037_*1038del
NM_001195248.2:c.*851_*852del
NM_001195249.1:c.*851_*852del
NM_001368995.1:c.*851_*852del
NM_001369001.1:c.*851_*852del
NM_001369002.1:c.*851_*852del
NM_001370670.1:c.*851_*852del
NM_001370673.1:c.*851_*852del
NM_175073.2:c.*851_*852del
NG_012821.2:g.57485_57486del
NC_000009.12:g.32972647_32972648del
NC_000009.11:g.32972645_32972646del
NR_160920.1:n.1719_1720del
NR_160929.1:n.1773_1774del
NR_160930.1:n.1826_1827del
NR_036577.1:n.1844_1845del
NR_160921.1:n.1850_1851del
NR_160923.1:n.1885_1886del
NR_160928.1:n.1895_1896del
NR_160931.1:n.2065_2066del
NR_160922.1:n.2081_2082del
NR_160925.1:n.2086_2087del
NM_001369003.1:c.*851_*852del
NM_001369004.1:c.*851_*852del
NM_001369005.1:c.*851_*852del
NM_001370669.1:c.*851_*852del
NR_160926.1:n.1876_1877del
NR_160927.1:n.1969_1970del
NM_175073.2:c.*851_*852delCT
Position
Human AssemblyChrPosition (strand)Source
GRCh38932,972,646 - 32,972,647CLINVAR
GRCh37932,972,644 - 32,972,645CLINVAR
Cytogenetic Map99p21.1CLINVAR



Disease Annotations     Click to see Annotation Detail View


Additional Information

Database Acc Id Source(s)
ClinVar RCV000314782 CLINVAR
  RCV000369506 CLINVAR
dbSNP (RS) rs377365362 CLINVAR
MedGen CN239198 CLINVAR
  CN239212 CLINVAR
NCBI Gene APTX CLINVAR
OMIM 606350 CLINVAR