View genomic variant #0000000015

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.33478946G>A
Published as -
GERP 5.170
Segregation -
DB-ID AK2_000008
dbSNP ID rs267606645
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 +/+ - 6/6 c.532C>T p.(Arg178Cys) - missense_variant - -
AK2 NM_001625.3 +/+ - 6/6 c.556C>T p.(Arg186Cys) benign(0.015) missense_variant - deleterious(0.02)
AK2 NM_013411.4 +/+ - 6/6 c.556C>T p.(Arg186Cys) benign(0.015) missense_variant - deleterious(0.02)
AK2 NR_037591.1 +/+ - 7/7 n.757C>T - - non_coding_transcript_exon_variant,non_coding_transcript_variant - -
AK2 NR_037592.1 +/+ - 7/7 n.757C>T - - non_coding_transcript_exon_variant,non_coding_transcript_variant - -


ClinVar @ MSeqDR

0.00003
33297
MedGen:C0272167,OMIM:267500,Orphanet:ORPHA33355,SNOMED CT:111584000
Reticular dysgenesis
HGVS variant names NC 000001.10:g.33478946G>A
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:103020.0009
Gene symbol:Gene id. AK2:204
SO:0001583|missense variant,SO:0001624|3 prime UTR variant
1
dbSNP ID 267606645
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
CM09000513347894633478946HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available
rs26760664513347894633478946G/Aclinically associatedRETICULAR DYSGENESIS