chr7:42187951:C>T Detail (hg19) (GLI3)

Information

Genome

Assembly Position
hg19 chr7:42,187,951-42,187,951
hg38 chr7:42,148,352-42,148,352 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000168.5:c.241G>A NP_000159.3:p.Glu81Lys
Ensemble ENST00000395925.8:c.241G>A ENST00000395925.8:p.Glu81Lys
ENST00000479210.1:c.64G>A ENST00000479210.1:p.Glu22Lys
Summary

MGeND

Clinical significance Benign
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 165240 OMIM
HGNC 4319 HGNC
Ensembl ENSG00000106571 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM1313082 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign Centenarian germline MGS000068
(TMGS000140) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2017-01-26 criteria provided, single submitter not provided germline Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Greig cephalopolysyndactyly syndrome,Polysyndactyly 4,Polydactyly, postaxial, type A1,Hamartoma of hypothalamus,Pallister-Hall syndrome unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Greig cephalopolysyndactyly syndrome,Polysyndactyly 4,Polydactyly, postaxial, type A1,Hamartoma of hypothalamus,Pallister-Hall syndrome unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Greig cephalopolysyndactyly syndrome,Polysyndactyly 4,Polydactyly, postaxial, type A1,Hamartoma of hypothalamus,Pallister-Hall syndrome unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Greig cephalopolysyndactyly syndrome,Polysyndactyly 4,Polydactyly, postaxial, type A1,Hamartoma of hypothalamus,Pallister-Hall syndrome unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Greig cephalopolysyndactyly syndrome,Polysyndactyly 4,Polydactyly, postaxial, type A1,Hamartoma of hypothalamus,Pallister-Hall syndrome unknown Detail
Benign 2017-09-28 criteria provided, single submitter polydactyly germline Detail
Benign 2017-09-28 criteria provided, single submitter Greig cephalopolysyndactyly syndrome germline Detail
Benign 2017-09-28 criteria provided, single submitter Pallister-Hall syndrome germline Detail
Likely benign 2024-01-29 criteria provided, single submitter Greig cephalopolysyndactyly syndrome,Pallister-Hall syndrome germline Detail
Likely benign 2024-01-29 criteria provided, single submitter Greig cephalopolysyndactyly syndrome,Pallister-Hall syndrome germline Detail
Likely benign 2023-09-22 criteria provided, single submitter Inborn genetic diseases germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) AND not provided ClinVar Detail
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) AND multiple conditions ClinVar Detail
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) AND multiple conditions ClinVar Detail
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) AND multiple conditions ClinVar Detail
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) AND multiple conditions ClinVar Detail
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) AND multiple conditions ClinVar Detail
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) AND Polydactyly ClinVar Detail
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) AND Greig cephalopolysyndactyly syndrome ClinVar Detail
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) AND Pallister-Hall syndrome ClinVar Detail
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) AND multiple conditions ClinVar Detail
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) AND multiple conditions ClinVar Detail
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) AND Inborn genetic diseases 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
rs376725882 dbSNP
Genome
hg19
Position
chr7:42,187,951-42,187,951
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8430
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
118022
Allele Counts in All Race (ExAC)
12
Heterozygous Counts in All Race (ExAC)
12
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.0167595871956076E-4
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