View genomic variant #0000000018

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.33487217G>A
Published as -
GERP 4.460
Segregation -
DB-ID AK2_000002
dbSNP ID rs267606648
Frequency -
Sources ; clinVar; Ensembl;
Reference 19043416
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
AK2 NM_001199199.1 +/+ - 3/6 c.307C>T p.(Arg103Trp) - missense_variant - -
AK2 NM_001625.3 +/+ - 3/6 c.307C>T p.(Arg103Trp) - missense_variant - -
AK2 NM_013411.4 +/+ - 3/6 c.307C>T p.(Arg103Trp) - missense_variant - -
AK2 NR_037591.1 +/+ - 4/7 n.508C>T - - non_coding_transcript_exon_variant,non_coding_transcript_variant - -
AK2 NR_037592.1 +/+ - 4/7 n.508C>T - - non_coding_transcript_exon_variant,non_coding_transcript_variant - -


ClinVar @ MSeqDR

33299
MedGen:C0272167,OMIM:267500,Orphanet:ORPHA33355,SNOMED CT:111584000
Reticular dysgenesis
HGVS variant names NC 000001.10:g.33487217G>A
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:103020.0011,UniProtKB (protein):P54819#VAR 054630
Gene symbol:Gene id. AK2:204
SO:0001583|missense variant
1
dbSNP ID 267606648
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
rs26760664813348721733487217G/A/Tclinically associatedRETICULAR DYSGENESIS
CM09000613348721733487217HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available