NM_001195248.2(APTX):c.771-20dupRat Genome Database

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Variant : CV211373 (NM_001195248.2(APTX):c.771-20dup) Homo sapiens

Symbol: CV211373
Name: NM_001195248.2(APTX):c.771-20dup
RGD ID: 10411012
Condition: Ataxia with Oculomotor Apraxia [RCV000365200]|Coenzyme Q10 deficiency, Oculomotor Apraxia Type [RCV000310585]|not specified [RCV000199367]
Clinical Significance: benign
Last Evaluated: 03/16/2018
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: APTX  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001195250.2:c.609-20dup
NM_175069.3:c.771-20dup
NM_175073.2:c.771-12dupT
NG_012821.1:g.32056dup
NM_001369005.1:c.507-20dup
NM_001368995.1:c.771-20dup
NM_001368997.1:c.771-20dup
NM_001369002.1:c.507-20dup
NM_001369003.1:c.507-20dup
NM_001369004.1:c.507-20dup
NM_001369006.1:c.507-20dup
NM_001370669.1:c.507-20dup
NM_001370670.1:c.507-20dup
NM_001370673.1:c.507-20dup
NM_001195252.2:c.555-20dup
NM_001195254.1:c.609-20dup
NM_001369000.1:c.609-20dup
NM_001369001.1:c.609-20dup
NM_001195248.2:c.771-20dup
NM_001195249.1:c.771-20dup
NM_001368996.1:c.771-20dup
NM_001368998.1:c.771-20dup
NM_001195251.1:c.771-20dup
NM_001368999.1:c.771-20dup
NM_175073.2:c.771-20dup
NG_012821.2:g.55559dup
NC_000009.12:g.32974581dup
NC_000009.11:g.32974579dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38932,974,572 - 32,974,573CLINVAR
GRCh37932,974,570 - 32,974,571CLINVAR
Cytogenetic Map99p21.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000199367 CLINVAR
  RCV000310585 CLINVAR
  RCV000365200 CLINVAR
dbSNP (RS) rs34600530 CLINVAR
MedGen CN169374 CLINVAR
  CN239198 CLINVAR
  CN239212 CLINVAR
NCBI Gene APTX CLINVAR
OMIM 606350 CLINVAR