NM_001195248.2(APTX):c.375A>T (p.Glu125Asp)Rat Genome Database

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Variant : CV308165 (NM_001195248.2(APTX):c.375A>T (p.Glu125Asp)) Homo sapiens

Symbol: CV308165
Name: NM_001195248.2(APTX):c.375A>T (p.Glu125Asp)
RGD ID: 11652051
Condition: Ataxia with Oculomotor Apraxia [RCV000302438]|Ataxia-oculomotor apraxia type 1 [RCV000390070]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
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_001368999.1:c.375A>T
NR_160921.1:n.345A>T
NR_160925.1:n.581A>T
NM_001369003.1:c.111A>T
NM_001369004.1:c.111A>T
NM_001369005.1:c.111A>T
NP_001357598.1:p.Glu37Asp
NP_001357599.1:p.Glu37Asp
NP_001357602.1:p.Glu37Asp
NM_175073.2:c.375A>T
NG_012821.1:g.18977A>T
NC_000009.12:g.32987652T>A
NC_000009.11:g.32987650T>A
NP_778243.1:p.Glu125Asp
NM_001369002.1:c.111A>T
NM_001369006.1:c.111A>T
NM_001370669.1:c.111A>T
NM_001370670.1:c.111A>T
NM_001370673.1:c.111A>T
NM_001195250.2:c.213A>T
NM_001195254.1:c.213A>T
NM_001369001.1:c.213A>T
NM_001195252.2:c.267+108A>T
NM_001195248.2:c.375A>T
NM_001195249.1:c.375A>T
NM_001195251.1:c.375A>T
NM_001368995.1:c.375A>T
NM_175069.3:c.375A>T
NG_012821.2:g.42480A>T
NR_160930.1:n.321A>T
NR_160923.1:n.380A>T
NR_160924.1:n.385A>T
NR_160931.1:n.560A>T
NR_160922.1:n.576A>T
NP_001355924.1:p.Glu125Asp
NP_001355925.1:p.Glu125Asp
NP_001355932.1:p.Glu37Asp
NP_001355934.1:p.Glu37Asp
NM_001368998.1:c.375A>T
NP_001355935.1:p.Glu37Asp
NP_001182183.1:p.Glu71Asp
NP_001355929.1:p.Glu71Asp
NP_001355930.1:p.Glu71Asp
NP_001355926.1:p.Glu125Asp
NP_001355927.1:p.Glu125Asp
NP_001355928.1:p.Glu125Asp
NP_778239.2:p.Glu125Asp
NP_001355931.1:p.Glu37Asp
NR_036577.1:n.339A>T
NR_160929.1:n.495A>T
NR_160928.1:n.581A>T
NR_160927.1:n.691A>T
NP_001182177.2:p.Glu125Asp
NP_001182178.1:p.Glu125Asp
NP_001182180.1:p.Glu125Asp
NM_001369000.1:c.213A>T
NM_001368996.1:c.375A>T
NM_001368997.1:c.375A>T
NP_001355933.1:p.Glu37Asp
NR_160926.1:n.371A>T
NR_160920.1:n.441A>T
NP_001182179.2:p.Glu71Asp
Position
Human AssemblyChrPosition (strand)Source
GRCh38932,987,652 - 32,987,652CLINVAR
GRCh37932,987,650 - 32,987,650CLINVAR
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 RCV000302438 CLINVAR
  RCV000390070 CLINVAR
dbSNP (RS) rs886063858 CLINVAR
MedGen C1859598 CLINVAR
  CN239198 CLINVAR
NCBI Gene APTX CLINVAR
OMIM 208920 CLINVAR
  606350 CLINVAR