View genomic variant #0000000019

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>T
Published as -
GERP 4.460
Segregation -
DB-ID AK2_000003
dbSNP ID rs267606648
Frequency -
Sources ; clinVar; Ensembl;
Reference 19043416
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 8.0E-5 View details
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>A p.(=) - synonymous_variant - -
AK2 NM_001625.3 +/+ - 3/6 c.307C>A p.(=) - synonymous_variant - -
AK2 NM_013411.4 +/+ - 3/6 c.307C>A p.(=) - synonymous_variant - -
AK2 NR_037591.1 +/+ - 4/7 n.508C>A - - non_coding_transcript_exon_variant,non_coding_transcript_variant - -
AK2 NR_037592.1 +/+ - 4/7 n.508C>A - - 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