NM_001195248.2(APTX):c.484-12_484-11insGRat Genome Database

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Variant : CV318392 (NM_001195248.2(APTX):c.484-12_484-11insG) Homo sapiens

Symbol: CV318392
Name: NM_001195248.2(APTX):c.484-12_484-11insG
RGD ID: 11602709
Condition: Ataxia with Oculomotor Apraxia [RCV000387566]|Coenzyme Q10 deficiency, Oculomotor Apraxia Type [RCV000293319]
Clinical Significance: likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: APTX  
Variant Type: insertion (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001368997.1:c.484-12_484-11insG
NM_001369006.1:c.220-12_220-11insG
NM_001370669.1:c.220-12_220-11insG
NM_001370670.1:c.220-12_220-11insG
NM_001370673.1:c.220-12_220-11insG
NM_001195252.2:c.268-12_268-11insG
NM_001195250.2:c.322-12_322-11insG
NM_001195254.1:c.322-12_322-11insG
NM_175073.2:c.484-12_484-11insG
NG_012821.1:g.20587_20588insG
NC_000009.12:g.32986041_32986042insC
NC_000009.11:g.32986039_32986040insC
NM_001369002.1:c.220-12_220-11insG
NM_001369003.1:c.220-12_220-11insG
NM_001369004.1:c.220-12_220-11insG
NM_001369000.1:c.322-12_322-11insG
NM_001369001.1:c.322-12_322-11insG
NM_001195248.2:c.484-12_484-11insG
NM_001369005.1:c.220-12_220-11insG
NM_001195249.1:c.484-12_484-11insG
NM_001195251.1:c.484-12_484-11insG
NM_001368995.1:c.484-12_484-11insG
NM_001368996.1:c.484-12_484-11insG
NM_001368998.1:c.484-12_484-11insG
NM_001368999.1:c.484-12_484-11insG
NM_175069.3:c.484-12_484-11insG
NG_012821.2:g.44090_44091insG
Position
Human AssemblyChrPosition (strand)Source
GRCh38932,986,041 - 32,986,042CLINVAR
GRCh37932,986,039 - 32,986,040CLINVAR
Cytogenetic Map99p21.1CLINVAR



Disease Annotations     Click to see Annotation Detail View


Additional Information

Database Acc Id Source(s)
ClinVar RCV000293319 CLINVAR
  RCV000387566 CLINVAR
dbSNP (RS) rs377129152 CLINVAR
MedGen CN239198 CLINVAR
  CN239212 CLINVAR
NCBI Gene APTX CLINVAR
OMIM 606350 CLINVAR