NM_001195248.2(APTX):c.484-13G>TRat Genome Database
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Variant : CV140118 (NM_001195248.2(APTX):c.484-13G>T) Homo sapiens

Symbol: CV140118
Name: NM_001195248.2(APTX):c.484-13G>T
RGD ID: 8690168
Condition: Ataxia with Oculomotor Apraxia [RCV000346974]|Ataxia-oculomotor apraxia type 1 [RCV000289641]|not specified [RCV000123681]
Clinical Significance: benign
Last Evaluated: 06/14/2016
Review Status: classified by single submitter|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_175073.2:c.484-13G>T
NG_012821.1:g.20586G>T
NC_000009.12:g.32986043C>A
NC_000009.11:g.32986041C>A
NM_001369003.1:c.220-13G>T
NM_001369004.1:c.220-13G>T
NM_001369005.1:c.220-13G>T
NM_001369006.1:c.220-13G>T
NM_001370669.1:c.220-13G>T
NM_001368998.1:c.484-13G>T
NM_001369001.1:c.322-13G>T
NM_001195248.2:c.484-13G>T
NM_001369002.1:c.220-13G>T
NM_001370670.1:c.220-13G>T
NM_001370673.1:c.220-13G>T
NM_001195252.2:c.268-13G>T
NM_001195250.2:c.322-13G>T
NM_001195254.1:c.322-13G>T
NM_001369000.1:c.322-13G>T
NM_001195249.1:c.484-13G>T
NM_001195251.1:c.484-13G>T
NM_001368995.1:c.484-13G>T
NM_001368996.1:c.484-13G>T
NM_001368997.1:c.484-13G>T
NM_001368999.1:c.484-13G>T
NM_175069.3:c.484-13G>T
NG_012821.2:g.44089G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38932,986,043 - 32,986,043CLINVAR
GRCh37932,986,041 - 32,986,041CLINVAR
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 RCV000123681 CLINVAR
  RCV000289641 CLINVAR
  RCV000346974 CLINVAR
dbSNP (RS) rs10123944 CLINVAR
MedGen C1859598 CLINVAR
  CN169374 CLINVAR
  CN239198 CLINVAR
NCBI Gene APTX CLINVAR
OMIM 208920 CLINVAR
  606350 CLINVAR