chr11:2135497:C> Detail (hg38) (IGF2, INS-IGF2)

Information

Genome

Assembly Position
hg19 chr11:2,156,727-2,156,727 
hg38 chr11:2,135,497-2,135,497

HGVS

Type Transcript Protein
RefSeq NM_001291862.2:c.27delG NP_001278791.1:p.Met9IlefsTer51
NM_001291861.2:c.27delG NP_001278790.1:p.Met9IlefsTer51
NM_000612.5:c.27delG NP_000603.1:p.Met9IlefsTer54
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 147470 OMIM
HGNC 5466 HGNC
Ensembl ENSG00000167244 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2017-02-22 criteria provided, single submitter Silver-Russell syndrome 3 germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000612.6(IGF2):c.27del (p.Met9fs) AND Silver-Russell syndrome 3 ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1858943428 dbSNP
Genome
hg38
Position
chr11:2,135,497-2,135,497
Variant Type
snv
Reference Allele
C
Alternative Allele
-
Genome browser