View genomic variant #0000000018

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.33487217G>A
Published as -
GERP 4.460
Segregation -
DB-ID AK2_000002 See all 2 reported entries
MSCV MSCV_0000018
dbSNP ID rs267606648
Frequency -
Sources ; clinVar; Ensembl;
Reference 19043416
Variant remarks -
Genetic origin -
Variant_disease -
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 0000000018 +/+ - 3/6 c.307C>T p.(Arg103Trp) - missense_variant - -
AK2 00000426 NM_001625.3 0000000018 +/+ - 3/6 c.307C>T p.(Arg103Trp) - missense_variant - -
AK2 00000424 NM_013411.4 0000000018 +/+ - 3/6 c.307C>T p.(Arg103Trp) - missense_variant - -
AK2 00000425 NR_037591.1 0000000018 +/+ - 4/7 n.508C>T - - non_coding_transcript_exon_variant,non_coding_transcript_variant - -
AK2 00000427 NR_037592.1 0000000018 +/+ - 4/7 n.508C>T - - non_coding_transcript_exon_variant,non_coding_transcript_variant - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000019922;
Chromosome 1:33487217..33487217
ClinVar Allele ID 33299
Disease database name and identifier MONDO:MONDO:0009973, MedGen:C0272167, OMIM:267500, Orphanet:33355
ClinVar preferred disease name Reticular dysgenesis
HGVS variant names NC 000001.10:g.33487217G>A
ClinVar review status criteria provided, single submitter
Clinical Significance Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ClinGen:CA128003|OMIM:103020.0011|UniProtKB:P54819#VAR 054630
Gene symbol:Gene id. AK2:204
Molecular consequence SO:0001583|missense variant, SO:0001619|non-coding transcript variant
Allele origin germline
dbSNP ID 267606648
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000823850;
Chromosome 1:33487217..33487217
Allele frequencies from ESP 0.00008
ClinVar Allele ID 627778
Disease database name and identifier MONDO:MONDO:0009973, MedGen:C0272167, OMIM:267500, Orphanet:33355
ClinVar preferred disease name Reticular dysgenesis
HGVS variant names NC 000001.10:g.33487217G>T
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. AK2:204
Molecular consequence SO:0001619|non-coding transcript variant, SO:0001819|synonymous variant
Allele origin germline
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:

None