View genomic variant #0000015288

Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.33490063T>C
Published as -
GERP -
Segregation -
DB-ID AK2_000023
MSCV MSCV_0015288
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

5 entries on 1 page. Showing entries 1 - 5.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
AK2 00000423 NM_001199199.1 0000015288 ./. - - c.199A>G p.(Thr67Ala) - - - -
AK2 00000426 NM_001625.3 0000015288 ./. - - c.199A>G p.(Thr67Ala) - - - -
AK2 00000424 NM_013411.4 0000015288 ./. - - c.199A>G p.(Thr67Ala) - - - -
AK2 00000425 NR_037591.1 0000015288 ./. - - n.400A>G - - - - -
AK2 00000427 NR_037592.1 0000015288 ./. - - n.400A>G - - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000635195;
Chromosome 1:33490063..33490063
Allele frequencies from ExAC 0.00002
ClinVar Allele ID 515915
Disease database name and identifier MONDO:MONDO:0009973, MedGen:C0272167, OMIM:267500, Orphanet:ORPHA33355, SNOMED CT:111584000
ClinVar preferred disease name Reticular dysgenesis
HGVS variant names NC 000001.10:g.33490063T>C
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. AK2:204
Molecular consequence SO:0001583|missense variant, SO:0001619|non-coding transcript variant, SO:0001627|intron variant
Allele origin germline
dbSNP ID 771799826
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None