NM_001195248.2(APTX):c.484-25_484-5delRat Genome Database

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Variant : CV195446 (NM_001195248.2(APTX):c.484-25_484-5del) Homo sapiens

Symbol: CV195446
Name: NM_001195248.2(APTX):c.484-25_484-5del
RGD ID: 10049020
Condition: Ataxia with Oculomotor Apraxia [RCV000263758]|Ataxia-oculomotor apraxia type 1 [RCV000999774]|Coenzyme Q10 deficiency, Oculomotor Apraxia Type [RCV000319013]|not provided [RCV000676810]|not specified [RCV000179561]
Clinical Significance: benign|likely benign
Last Evaluated: 08/01/2018
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: APTX  
Variant Type: deletion (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001195252.2:c.268-25_268-5del
NM_001369001.1:c.322-25_322-5del
NM_001370670.1:c.220-25_220-5del
NG_012821.1:g.20574_20594del
NM_001369002.1:c.220-25_220-5del
NM_001369003.1:c.220-25_220-5del
NM_001195249.1:c.484-25_484-5del
NM_001195251.1:c.484-25_484-5del
NG_012821.2:g.44077_44097del
NC_000009.12:g.32986043_32986063del
NC_000009.11:g.32986041_32986061del
NM_001195248.1:c.526-25_526-5delGTTTTTTTTTTTGTTTTTTTT
NM_001369004.1:c.220-25_220-5del
NM_001369006.1:c.220-25_220-5del
NM_001370669.1:c.220-25_220-5del
NM_001370673.1:c.220-25_220-5del
NM_001195250.2:c.322-25_322-5del
NM_001195254.1:c.322-25_322-5del
NM_001369000.1:c.322-25_322-5del
NM_001368995.1:c.484-25_484-5del
NM_001368996.1:c.484-25_484-5del
NM_001368997.1:c.484-25_484-5del
NM_175069.3:c.484-25_484-5del
NM_001369005.1:c.220-25_220-5del
NM_001195248.2:c.484-25_484-5del
NM_001368998.1:c.484-25_484-5del
NM_001368999.1:c.484-25_484-5del
NM_175073.2:c.484-25_484-5del21
NM_001195248.1:c.526-25_526-5delGTTTTTTTTTTTGTTTTTTTT
NM_175073.2:c.484-25_484-5del
NM_175073.2:c.484-25_484-5delGTTTTTTTTTTTGTTTTTTTT
NC_000009.11:g.32986041_32986061delCAAAAAAAAAAACAAAAAAAA
Position
Human AssemblyChrPosition (strand)Source
GRCh38932,986,035 - 32,986,055CLINVAR
GRCh37932,986,033 - 32,986,053CLINVAR
Cytogenetic Map99p21.1CLINVAR
Trait Synonyms: Adult onset ataxia with oculomotor apraxia; AllHighlyPenetrant; Ataxia-oculomotor apraxia syndrome; Ataxia-telangiectasia-like syndrome; Early-onset ataxia with oculomotor apraxia and hypoalbuminemia; Early-onset cerebellar ataxia with hypoalbuminemia



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:24033266   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000179561 CLINVAR
  RCV000263758 CLINVAR
  RCV000319013 CLINVAR
  RCV000676810 CLINVAR
  RCV000999774 CLINVAR
dbSNP (RS) rs200922655 CLINVAR
MedGen C1859598 CLINVAR
  CN169374 CLINVAR
  CN239198 CLINVAR
  CN239212 CLINVAR
  CN517202 CLINVAR
NCBI Gene APTX CLINVAR
OMIM 208920 CLINVAR
  606350 CLINVAR