View genomic variant #0000015289

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type -
DNA change (genomic) (Relative to hg19 / GRCh37) g.33490144del
Published as -
GERP -
Segregation -
DB-ID AK2_000004 See all 2 reported entries
MSCV MSCV_0000020
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 0000015289 ./. - - c.118del p.(Cys40Valfs*5) - - - -
AK2 00000426 NM_001625.3 0000015289 ./. - - c.118del p.(Cys40Valfs*5) - - - -
AK2 00000424 NM_013411.4 0000015289 ./. - - c.118del p.(Cys40Valfs*5) - - - -
AK2 00000425 NR_037591.1 0000015289 ./. - - n.319del - - - - -
AK2 00000427 NR_037592.1 0000015289 ./. - - n.319del - - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000019913;
Chromosome 1:33490144..33490144
ClinVar Allele ID 33290
Disease database name and identifier MedGen:C0272167, OMIM:267500, Orphanet:ORPHA33355, SNOMED CT:111584000
ClinVar preferred disease name Reticular dysgenesis
HGVS variant names NC 000001.10:g.33490144del
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type Deletion
Sequence Ontology for variant type SO:0000159
Variant clinical sources reported OMIM Allelic Variant:103020.0002
Gene symbol:Gene id. AK2:204
Molecular consequence SO:0001589|frameshift variant, SO:0001619|non-coding transcript variant, SO:0001623|5 prime UTR variant, SO:0001627|intron variant
Allele origin germline
dbSNP ID 387906581
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000907631;
Chromosome 1:33490145..33490145
ClinVar Allele ID 732393
Disease database name and identifier MedGen:CN517202
ClinVar preferred disease name not provided
HGVS variant names NC 000001.10:g.33490145G>A
ClinVar review status criteria provided, single submitter
Clinical Significance Likely benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. AK2:204
Molecular consequence SO:0001619|non-coding transcript variant, SO:0001819|synonymous variant, SO:0001623|5 prime UTR variant, SO:0001627|intron variant
Allele origin germline
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
CD09001313349014433490144HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available