NM_001195248.2(APTX):c.134-12A>CRat Genome Database

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Variant : CV318394 (NM_001195248.2(APTX):c.134-12A>C) Homo sapiens

Symbol: CV318394
Name: NM_001195248.2(APTX):c.134-12A>C
RGD ID: 11604071
Condition: Ataxia with Oculomotor Apraxia [RCV000353666]|Ataxia-oculomotor apraxia type 1 [RCV000305808]|not specified [RCV000614999]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 12/28/2017
Review Status: criteria provided, single submitter
Related Genes: APTX  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_001369005.1:c.-126-17A>C
NM_001369006.1:c.-126-17A>C
NM_001370669.1:c.-126-17A>C
NM_175073.2:c.134-12A>C
NG_012821.1:g.18488A>C
NC_000009.12:g.32988141T>G
NC_000009.11:g.32988139T>G
NM_001195251.1:c.134-12A>C
NM_001195252.2:c.134-12A>C
NM_001368995.1:c.134-12A>C
NM_175069.3:c.134-12A>C
NM_001195250.2:c.134-410A>C
NM_001195254.1:c.134-410A>C
NM_001370670.1:c.-126-17A>C
NM_001370673.1:c.-126-17A>C
NM_001369004.1:c.-84-295A>C
NM_001195248.2:c.134-12A>C
NM_001195249.1:c.134-12A>C
NM_001369002.1:c.-126-17A>C
NM_001369001.1:c.134-410A>C
NG_012821.2:g.41991A>C
NM_001369003.1:c.-126-17A>C
NM_001368996.1:c.134-12A>C
NM_001368997.1:c.134-12A>C
NM_001368998.1:c.134-12A>C
NM_001368999.1:c.134-12A>C
NM_001369000.1:c.134-410A>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38932,988,141 - 32,988,141CLINVAR
GRCh37932,988,139 - 32,988,139CLINVAR
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 Information

Database Acc Id Source(s)
ClinVar RCV000305808 CLINVAR
  RCV000353666 CLINVAR
  RCV000614999 CLINVAR
dbSNP (RS) rs113391831 CLINVAR
MedGen C1859598 CLINVAR
  CN169374 CLINVAR
  CN239198 CLINVAR
NCBI Gene APTX CLINVAR
OMIM 208920 CLINVAR
  606350 CLINVAR