View genomic variant #0000015283

Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.33487007C>T
Published as -
GERP -
Segregation -
DB-ID AK2_000019
MSCV MSCV_0015283
dbSNP ID -
Frequency -
Sources ; clinvar;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.00408 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 0000015283 ./. - - c.386G>A p.(Ser129Asn) - - - -
AK2 00000426 NM_001625.3 0000015283 ./. - - c.386G>A p.(Ser129Asn) - - - -
AK2 00000424 NM_013411.4 0000015283 ./. - - c.386G>A p.(Ser129Asn) - - - -
AK2 00000425 NR_037591.1 0000015283 ./. - - n.587G>A - - - - -
AK2 00000427 NR_037592.1 0000015283 ./. - - n.587G>A - - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000607388; RCV000635196; RCV001083908;
Chromosome 1:33487007..33487007
Allele frequencies from ESP 0.00408
Allele frequencies from ExAC 0.00423
Allele frequencies from TGP 0.00220
ClinVar Allele ID 498579
Disease database name and identifier MedGen:CN169374|MONDO:MONDO:0009973, MedGen:C0272167, OMIM:267500, Orphanet:33355|MedGen:C3661900
ClinVar preferred disease name not specified|Reticular dysgenesis|not provided
HGVS variant names NC 000001.10:g.33487007C>T
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Uncertain significance(1)|Benign(2)|Likely benign(1)
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ClinGen:CA747168
Gene symbol:Gene id. AK2:204
Molecular consequence SO:0001583|missense variant, SO:0001627|intron variant
Allele origin germline
dbSNP ID 61750965
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