View genomic variant #0000000016

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.33478954A>T
Published as -
GERP 5.170
Segregation -
DB-ID AK2_000009
dbSNP ID rs267606644
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.524T>A p.(Leu175*) - stop_gained - -
AK2 NM_001625.3 +/+ - 6/6 c.548T>A p.(Leu183*) - stop_gained - -
AK2 NM_013411.4 +/+ - 6/6 c.548T>A p.(Leu183*) - stop_gained - -
AK2 NR_037591.1 +/+ - 7/7 n.749T>A - - non_coding_transcript_exon_variant,non_coding_transcript_variant - -
AK2 NR_037592.1 +/+ - 7/7 n.749T>A - - non_coding_transcript_exon_variant,non_coding_transcript_variant - -


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
rs26760664413347895433478954A/Tclinically associatedRETICULAR DYSGENESIS