NM_001195248.2(APTX):c.742T>C (p.Leu248=)Rat Genome Database
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Variant : CV308164 (NM_001195248.2(APTX):c.742T>C (p.Leu248=)) Homo sapiens

Symbol: CV308164
Name: NM_001195248.2(APTX):c.742T>C (p.Leu248=)
RGD ID: 11599609
Condition: Ataxia with Oculomotor Apraxia [RCV000361903]|Ataxia-oculomotor apraxia type 1 [RCV000267173]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: APTX  
Variant Type: single nucleotide variant (SO:0001619)
Source: CLINVAR
Molecular Consequence: non-coding transcript variant|synonymous variant
Evidence: clinical testing
HGVS Name(s): NP_001355934.1:p.Leu160=
NM_175073.2:c.742T>C
NG_012821.1:g.21970T>C
NC_000009.12:g.32984659A>G
NC_000009.11:g.32984657A>G
NP_778243.1:p.Leu248=
NR_160921.1:n.712T>C
NR_160926.1:n.738T>C
NR_160923.1:n.747T>C
NM_001369002.1:c.478T>C
NM_001369004.1:c.478T>C
NM_001370669.1:c.478T>C
NM_001369001.1:c.580T>C
NM_001195251.1:c.742T>C
NM_001368995.1:c.742T>C
NR_036577.1:n.706T>C
NM_001195252.2:c.526T>C
NM_001195250.2:c.580T>C
NM_001195254.1:c.580T>C
NM_001369000.1:c.580T>C
NM_001195249.1:c.742T>C
NM_001369003.1:c.478T>C
NR_160925.1:n.948T>C
NP_001355931.1:p.Leu160=
NP_001355932.1:p.Leu160=
NP_001182181.2:p.Leu176=
NP_001182179.2:p.Leu194=
NP_001355929.1:p.Leu194=
NP_001355930.1:p.Leu194=
NP_001182177.2:p.Leu248=
NP_001182178.1:p.Leu248=
NP_001182180.1:p.Leu248=
NP_001355924.1:p.Leu248=
NP_001355925.1:p.Leu248=
NP_001355926.1:p.Leu248=
NP_001355927.1:p.Leu248=
NP_001355928.1:p.Leu248=
NP_778239.2:p.Leu248=
NM_001368996.1:c.742T>C
NM_001368997.1:c.742T>C
NM_001368998.1:c.742T>C
NM_001368999.1:c.742T>C
NR_160924.1:n.752T>C
NR_160931.1:n.927T>C
NR_160922.1:n.943T>C
NP_001357599.1:p.Leu160=
NP_001357602.1:p.Leu160=
NP_001355935.1:p.Leu160=
NP_001357598.1:p.Leu160=
NM_001370670.1:c.478T>C
NM_001370673.1:c.478T>C
NP_001355933.1:p.Leu160=
NM_001369005.1:c.478T>C
NM_001369006.1:c.478T>C
NM_001195248.2:c.742T>C
NM_175069.3:c.742T>C
NG_012821.2:g.45473T>C
NR_160930.1:n.688T>C
NP_001182183.1:p.Leu194=
Position
Human AssemblyChrPosition (strand)Source
GRCh38932,984,659 - 32,984,659CLINVAR
GRCh37932,984,657 - 32,984,657CLINVAR
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 RCV000267173 CLINVAR
  RCV000361903 CLINVAR
dbSNP (RS) rs141195622 CLINVAR
MedGen C1859598 CLINVAR
  CN239198 CLINVAR
NCBI Gene APTX CLINVAR
OMIM 208920 CLINVAR
  606350 CLINVAR