View genomic variant #0000000016

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.33478954A>T
Published as -
GERP 5.170
Segregation -
DB-ID AK2_000009
MSCV MSCV_0000016
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

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 0000000016 +/+ - 6/6 c.524T>A p.(Leu175*) - stop_gained - -
AK2 00000426 NM_001625.3 0000000016 +/+ - 6/6 c.548T>A p.(Leu183*) - stop_gained - -
AK2 00000424 NM_013411.4 0000000016 +/+ - 6/6 c.548T>A p.(Leu183*) - stop_gained - -
AK2 00000425 NR_037591.1 0000000016 +/+ - 7/7 n.749T>A - - non_coding_transcript_exon_variant,non_coding_transcript_variant - -
AK2 00000427 NR_037592.1 0000000016 +/+ - 7/7 n.749T>A - - non_coding_transcript_exon_variant,non_coding_transcript_variant - -
Legend  


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