chr9:95469005:TGCGGAG> Detail (hg38) (PTCH1, LOC100507346)

Information

Genome

Assembly Position
hg19 chr9:98,231,287-98,231,293 
hg38 chr9:95,469,005-95,469,011

HGVS

Type Transcript Protein
RefSeq NM_000264.3:c.1990_1996delCTCCGCA NP_000255.2:p.Leu664ArgfsTer27
NM_001083606.1:c.1537_1543delCTCCGCA NP_001077075.1:p.Leu513ArgfsTer27
NM_001083602.1:c.1987_1993delCTCCGCA NP_001077071.1:p.Leu663ArgfsTer27
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2018-07-05 no assertion criteria provided Congenital hydrocephalus germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000264.5(PTCH1):c.1991_1997del (p.Leu664fs) AND Congenital hydrocephalus 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
rs1588574984 dbSNP
Genome
hg38
Position
chr9:95,469,005-95,469,011
Variant Type
snv
Reference Allele
TGCGGAG
Alternative Allele
-
Genome browser