NM_001195248.2(APTX):c.740G>A (p.Arg247Gln)Rat Genome Database

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Variant : CV318872 (NM_001195248.2(APTX):c.740G>A (p.Arg247Gln)) Homo sapiens

Symbol: CV318872
Name: NM_001195248.2(APTX):c.740G>A (p.Arg247Gln)
RGD ID: 11605295
Condition: Ataxia with Oculomotor Apraxia [RCV000317779]|Ataxia-oculomotor apraxia type 1 [RCV000372390]|not provided [RCV000999149]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: APTX  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_175073.2:c.740G>A
NG_012821.1:g.21968G>A
NC_000009.12:g.32984661C>T
NC_000009.11:g.32984659C>T
NP_778243.1:p.Arg247Gln
NM_001369002.1:c.476G>A
NM_001369003.1:c.476G>A
NM_001369004.1:c.476G>A
NM_001369005.1:c.476G>A
NM_001369006.1:c.476G>A
NM_001370669.1:c.476G>A
NM_001370670.1:c.476G>A
NM_001370673.1:c.476G>A
NM_001195252.2:c.524G>A
NM_001195250.2:c.578G>A
NM_001195254.1:c.578G>A
NM_001369000.1:c.578G>A
NM_001369001.1:c.578G>A
NM_001195248.2:c.740G>A
NM_001195249.1:c.740G>A
NM_001195251.1:c.740G>A
NM_001368995.1:c.740G>A
NM_001368996.1:c.740G>A
NM_001368997.1:c.740G>A
NM_001368998.1:c.740G>A
NM_001368999.1:c.740G>A
NG_012821.2:g.45471G>A
NR_160930.1:n.686G>A
NR_036577.1:n.704G>A
NR_160921.1:n.710G>A
NR_160926.1:n.736G>A
NM_175069.3:c.740G>A
NR_160923.1:n.745G>A
NR_160924.1:n.750G>A
NR_160931.1:n.925G>A
NR_160922.1:n.941G>A
NR_160925.1:n.946G>A
NP_001355931.1:p.Arg159Gln
NP_001355932.1:p.Arg159Gln
NP_001355933.1:p.Arg159Gln
NP_001355934.1:p.Arg159Gln
NP_001355935.1:p.Arg159Gln
NP_001357598.1:p.Arg159Gln
NP_001357599.1:p.Arg159Gln
NP_001357602.1:p.Arg159Gln
NP_001182181.2:p.Arg175Gln
NP_001182179.2:p.Arg193Gln
NP_001182183.1:p.Arg193Gln
NP_001355929.1:p.Arg193Gln
NP_001355930.1:p.Arg193Gln
NP_001182177.2:p.Arg247Gln
NP_001182178.1:p.Arg247Gln
NP_001182180.1:p.Arg247Gln
NP_001355924.1:p.Arg247Gln
NP_001355925.1:p.Arg247Gln
NP_001355926.1:p.Arg247Gln
NP_001355927.1:p.Arg247Gln
NP_001355928.1:p.Arg247Gln
NP_778239.2:p.Arg247Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh38932,984,661 - 32,984,661CLINVAR
GRCh37932,984,659 - 32,984,659CLINVAR
Cytogenetic Map99p21.1CLINVAR
Trait Synonyms: Adult onset ataxia with oculomotor apraxia; 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 RCV000317779 CLINVAR
  RCV000372390 CLINVAR
  RCV000999149 CLINVAR
dbSNP (RS) rs142133683 CLINVAR
MedGen C1859598 CLINVAR
  CN239198 CLINVAR
  CN517202 CLINVAR
NCBI Gene APTX CLINVAR
OMIM 208920 CLINVAR
  606350 CLINVAR