NM_001195248.2(APTX):c.18G>T (p.Trp6Cys)Rat Genome Database

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Variant : CV211380 (NM_001195248.2(APTX):c.18G>T (p.Trp6Cys)) Homo sapiens

Symbol: CV211380
Name: NM_001195248.2(APTX):c.18G>T (p.Trp6Cys)
RGD ID: 10411382
Condition: Ataxia with Oculomotor Apraxia [RCV000274167]|Ataxia-oculomotor apraxia type 1 [RCV000357224]|not provided [RCV000200146]
Clinical Significance: likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 07/20/2018
Review Status: criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|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_175073.1:c.18G>T
NP_778239.2:p.Trp6Cys
NM_175073.2:c.18G>T
NG_012821.1:g.16755G>T
NC_000009.12:g.32989874C>A
NC_000009.11:g.32989872C>A
NP_778243.1:p.Trp6Cys
NM_001369004.1:c.-200G>T
NM_001369006.1:c.-242G>T
NM_001369002.1:c.-242G>T
NM_001370669.1:c.-242G>T
NR_160921.1:n.108G>T
NR_160926.1:n.143G>T
NR_160929.1:n.143G>T
NR_160931.1:n.318G>T
NR_160922.1:n.339G>T
NR_160925.1:n.339G>T
NR_160927.1:n.339G>T
NM_001370670.1:c.-242G>T
NM_001370673.1:c.-242G>T
NM_001195248.2:c.18G>T
NM_001195250.2:c.18G>T
NM_001195251.1:c.18G>T
NM_001195252.2:c.18G>T
NM_001195254.1:c.18G>T
NM_001368995.1:c.18G>T
NM_001368996.1:c.18G>T
NM_001368997.1:c.18G>T
NM_001368998.1:c.18G>T
NM_001368999.1:c.18G>T
NM_001369000.1:c.18G>T
NM_001369001.1:c.18G>T
NM_175069.3:c.18G>T
NG_012821.2:g.40258G>T
NR_160923.1:n.143G>T
NM_001195249.1:c.18G>T
NR_160924.1:n.143G>T
NR_160928.1:n.339G>T
NR_160920.1:n.84G>T
NR_160930.1:n.84G>T
NR_036577.1:n.97G>T
NP_001182177.2:p.Trp6Cys
NP_001182178.1:p.Trp6Cys
NP_001182179.2:p.Trp6Cys
NP_001182180.1:p.Trp6Cys
NP_001182181.2:p.Trp6Cys
NP_001182183.1:p.Trp6Cys
NP_001355924.1:p.Trp6Cys
NP_001355925.1:p.Trp6Cys
NP_001355926.1:p.Trp6Cys
NP_001355927.1:p.Trp6Cys
NP_001355928.1:p.Trp6Cys
NP_001355929.1:p.Trp6Cys
NM_001369003.1:c.-242G>T
NM_001369005.1:c.-242G>T
NP_001355930.1:p.Trp6Cys
Position
Human AssemblyChrPosition (strand)Source
GRCh38932,989,874 - 32,989,874CLINVAR
GRCh37932,989,872 - 32,989,872CLINVAR
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 References at PubMed
PMID:25741868   PMID:26285866   PMID:26467025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000200146 CLINVAR
  RCV000274167 CLINVAR
  RCV000357224 CLINVAR
dbSNP (RS) rs144076460 CLINVAR
MedGen C1859598 CLINVAR
  CN239198 CLINVAR
  CN517202 CLINVAR
NCBI Gene APTX CLINVAR
OMIM 208920 CLINVAR
  606350 CLINVAR