View genomic variant #0000000017

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.33480127T>C
Published as -
GERP 5.120
Segregation -
DB-ID AK2_000001 See all 2 reported entries
MSCV MSCV_0000017
dbSNP ID rs267606643
Frequency -
Sources ; clinVar; Ensembl;
Reference 19043416
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 0000000017 +/+ - 5/6 c.470A>G p.(Asp157Gly) - missense_variant - -
AK2 00000426 NM_001625.3 0000000017 +/+ - 5/6 c.494A>G p.(Asp165Gly) probably_damaging(1) missense_variant - deleterious(0)
AK2 00000424 NM_013411.4 0000000017 +/+ - 5/6 c.494A>G p.(Asp165Gly) probably_damaging(1) missense_variant - deleterious(0)
AK2 00000425 NR_037591.1 0000000017 +/+ - 6/7 n.695A>G - - non_coding_transcript_exon_variant,non_coding_transcript_variant - -
AK2 00000427 NR_037592.1 0000000017 +/+ - 6/7 n.695A>G - - non_coding_transcript_exon_variant,non_coding_transcript_variant - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000019918;
Chromosome 1:33480127..33480127
ClinVar Allele ID 33295
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.33480127T>C
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:103020.0007|UniProtKB (protein):P54819#VAR 054631
Gene symbol:Gene id. AK2:204
Molecular consequence SO:0001583|missense variant, SO:0001619|non-coding transcript variant, SO:0001819|synonymous variant
Allele origin germline
dbSNP ID 267606643
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
CM09000413348012733480127HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available
rs26760664313348012733480127T/Cclinically associatedRETICULAR DYSGENESIS