chr11:2156597:>GC Detail (hg19) (IGF2, INS-IGF2)

Information

Genome

Assembly Position
hg19 chr11:2,156,597-2,156,597
hg38 chr11:2,135,367-2,135,367 

HGVS

Type Transcript Protein
RefSeq NM_000612.5:c.156_157insGC
NM_001127598.2:c.324_325insGC
NM_001291861.2:c.156_157insGC
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
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
Pathogenic no assertion criteria provided Silver-Russell syndrome 1 paternal Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000612.6(IGF2):c.157+1_157+2insGC AND Silver-Russell syndrome 1 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
rs1114167321 dbSNP
Genome
hg19
Position
chr11:2,156,597-2,156,597
Variant Type
snv
Reference Allele
-
Alternative Allele
GC
Genome browser