chr9:98231100:G>A Detail (hg19) (PTCH1, LOC100507346)

Information

Genome

Assembly Position
hg19 chr9:98,231,100-98,231,100
hg38 chr9:95,468,818-95,468,818 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001083606.1:c.1730C>T NP_001077075.1:p.Thr577Met
NM_000264.3:c.2183C>T NP_000255.2:p.Thr728Met
NM_001083602.1:c.2180C>T NP_001077071.1:p.Thr727Met
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 Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 601309 OMIM
HGNC 9585 HGNC
Ensembl ENSG00000185920 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM6932882 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign 2020/04/20 fundus of stomach not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2017-04-27 criteria provided, single submitter holoprosencephaly 7 germline Detail
Benign Likely benign 2023-12-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign Likely benign 2023-04-22 criteria provided, multiple submitters, no conflicts not specified germline unknown Detail
Benign Likely benign 2024-02-01 criteria provided, multiple submitters, no conflicts Gorlin syndrome germline Detail
Benign 2020-07-07 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Likely benign 2021-11-08 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 1,holoprosencephaly 7,Gorlin syndrome unknown Detail
Likely benign 2021-11-08 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 1,holoprosencephaly 7,Gorlin syndrome unknown Detail
Likely benign 2021-11-08 criteria provided, single submitter Basal cell carcinoma, susceptibility to, 1,holoprosencephaly 7,Gorlin syndrome unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) AND Holoprosencephaly 7 ClinVar Detail
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) AND not provided ClinVar Detail
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) AND not specified ClinVar Detail
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) AND Gorlin syndrome ClinVar Detail
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) AND multiple conditions ClinVar Detail
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) AND multiple conditions ClinVar Detail
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) AND multiple conditions 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
rs115556836 dbSNP
Genome
hg19
Position
chr9:98,231,100-98,231,100
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8654
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)
121408
Allele Counts in All Race (ExAC)
250
Heterozygous Counts in All Race (ExAC)
246
Homozygous Counts in All Race (ExAC)
2
Allele Frequency in All Race (ExAC)
0.00205917237743806
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