View genomic variant #0000015290

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.33502381G>C
Published as -
GERP -
Segregation -
DB-ID AK2_000024
MSCV MSCV_0015290
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.001 View details
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 0000015290 ./. - - c.49C>G p.(Arg17Gly) - - - -
AK2 00000426 NM_001625.3 0000015290 ./. - - c.49C>G p.(Arg17Gly) - - - -
AK2 00000424 NM_013411.4 0000015290 ./. - - c.49C>G p.(Arg17Gly) - - - -
AK2 00000425 NR_037591.1 0000015290 ./. - - n.132C>G - - - - -
AK2 00000427 NR_037592.1 0000015290 ./. - - n.132C>G - - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000537869; RCV001726221;
Chromosome 1:33502381..33502381
Allele frequencies from ESP 0.00100
Allele frequencies from TGP 0.00060
ClinVar Allele ID 448120
Disease database name and identifier MONDO:MONDO:0009973, MedGen:C0272167, OMIM:267500, Orphanet:ORPHA33355, SNOMED CT:111584000|MedGen:CN517202
ClinVar preferred disease name Reticular dysgenesis|not provided
HGVS variant names NC 000001.10:g.33502381G>C
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Likely benign(1), Uncertain significance(1)
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:0001623|5 prime UTR variant
Allele origin
dbSNP ID 138577419
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