NM_001195248.2(APTX):c.80T>C (p.Ile27Thr)Rat Genome Database

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Variant : CV318402 (NM_001195248.2(APTX):c.80T>C (p.Ile27Thr)) Homo sapiens

Symbol: CV318402
Name: NM_001195248.2(APTX):c.80T>C (p.Ile27Thr)
RGD ID: 11598904
Condition: Ataxia with Oculomotor Apraxia [RCV000299791]|Ataxia-oculomotor apraxia type 1 [RCV000261003]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: APTX  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant|missense variant
Evidence: clinical testing
HGVS Name(s): NM_001195252.2:c.80T>C
NM_001195254.1:c.80T>C
NM_001368999.1:c.80T>C
NR_160930.1:n.146T>C
NR_036577.1:n.159T>C
NR_160929.1:n.205T>C
NR_160931.1:n.380T>C
NR_160922.1:n.401T>C
NR_160925.1:n.401T>C
NR_160927.1:n.401T>C
NR_160928.1:n.401T>C
NP_001182177.2:p.Ile27Thr
NM_001195250.2:c.80T>C
NM_001195248.2:c.80T>C
NM_175073.2:c.80T>C
NG_012821.1:g.16817T>C
NC_000009.12:g.32989812A>G
NC_000009.11:g.32989810A>G
NP_778243.1:p.Ile27Thr
NM_001195249.1:c.80T>C
NR_160924.1:n.205T>C
NM_001369004.1:c.-138T>C
NM_001369002.1:c.-180T>C
NM_001369003.1:c.-180T>C
NM_001369005.1:c.-180T>C
NM_001369006.1:c.-180T>C
NM_001370669.1:c.-180T>C
NM_001195251.1:c.80T>C
NR_160923.1:n.205T>C
NG_012821.2:g.40320T>C
NP_001355928.1:p.Ile27Thr
NM_001369000.1:c.80T>C
NM_001369001.1:c.80T>C
NM_175069.3:c.80T>C
NR_160926.1:n.205T>C
NP_001182178.1:p.Ile27Thr
NP_001182179.2:p.Ile27Thr
NP_001182180.1:p.Ile27Thr
NP_001182183.1:p.Ile27Thr
NP_001355929.1:p.Ile27Thr
NP_001355930.1:p.Ile27Thr
NM_001370670.1:c.-180T>C
NM_001370673.1:c.-180T>C
NM_001368995.1:c.80T>C
NM_001368996.1:c.80T>C
NM_001368997.1:c.80T>C
NM_001368998.1:c.80T>C
NR_160920.1:n.146T>C
NR_160921.1:n.170T>C
NP_001182181.2:p.Ile27Thr
NP_001355924.1:p.Ile27Thr
NP_001355925.1:p.Ile27Thr
NP_001355926.1:p.Ile27Thr
NP_001355927.1:p.Ile27Thr
NP_778239.2:p.Ile27Thr
Position
Human AssemblyChrPosition (strand)Source
GRCh38932,989,812 - 32,989,812CLINVAR
GRCh37932,989,810 - 32,989,810CLINVAR
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 RCV000261003 CLINVAR
  RCV000299791 CLINVAR
dbSNP (RS) rs117041645 CLINVAR
MedGen C1859598 CLINVAR
  CN239198 CLINVAR
NCBI Gene APTX CLINVAR
OMIM 208920 CLINVAR
  606350 CLINVAR