chr19:7114277:C>T Detail (hg38) (INSR)

Information

Genome

Assembly Position
hg19 chr19:7,114,288-7,114,288 View the variant detail on this assembly version.
hg38 chr19:7,114,277-7,114,277

HGVS

Type Transcript Protein
RefSeq NM_000208.3:c.*2779G>A
NM_001079817.2:c.*2779G>A
Ensemble ENST00000302850.10:c.*2779G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.770
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 147670 OMIM
HGNC 6091 HGNC
Ensembl ENSG00000171105 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv61020683 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-01-12 criteria provided, single submitter Rabson-Mendenhall syndrome germline Detail
Benign 2018-01-12 criteria provided, single submitter Insulin-resistant diabetes mellitus AND acanthosis nigricans germline Detail
Benign 2018-01-12 criteria provided, single submitter Leprechaunism syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 prediabetes syndrome This cross-sectional study aimed to investigate the independent risk factors for... BeFree 26334876 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000208.4(INSR):c.*2779G>A AND Rabson-Mendenhall syndrome ClinVar Detail
NM_000208.4(INSR):c.*2779G>A AND Insulin-resistant diabetes mellitus AND acanthosis nigricans ClinVar Detail
NM_000208.4(INSR):c.*2779G>A AND Leprechaunism syndrome ClinVar Detail
This cross-sectional study aimed to investigate the independent risk factors for prediabetes, consid... DisGeNET 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
rs3745551 dbSNP
Genome
hg38
Position
chr19:7,114,277-7,114,277
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs3745551
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7702
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12908
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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