RGD:8598096 Rat Genome Database

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Variant: RGD:8598096 -  Homo sapiens

RGD ID: 8598096
RS ID: rs104894043
ClinVar ID: CV23922
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SHH  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 155,596,307
GRCh38 7 155,803,613
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000007.14:g.155803613C>T
NC_000007.13:g.155596307C>T
NP_000184.1:p.Ala226Thr
NG_007504.2:g.13661G>A
More... 		12/01/2019 intron variant|missense|missense variant pathogenic|likely pathogenic|uncertain significance antenatal|neonatal/infancy 1-5 / 10 000 none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SHH
Accession:NM_000193
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 226
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLARCLLLVLVSSLLVCSGLACGPGRGFGKRRHPKKLTPLAYKQFIPNVAEKTLGASGRYEGKISRNSERFKELTPNY
NPDIIFKDEENTGADRLMTQRCKDKLNALAISVMNQWPGVKLRVTEGWDEDGHHSEESLHYEGRAVDITTSDRDRSKYGM
LARLAVEAGFDWVYYESKAHIHCSVKAENSVAAKSGGCFPGSATVHLEQGGTKLVKDLSPGDRVLTADDQGRLLYSDFLT
FLDRDDGAKKVFYVIETREPRERLLLTAAHLLFVAPHNDSATGEPEASSGSGPPSGGALGPRALFASRVRPGQRVYVVAE
RDGDRRLLPAAVHSVTLSEEAAGAYAPLTAQGTILINRVLASCYAVIEEHSWAHRAFAPFRLAHALLAALAPARTDRGGD
SGGGDRGGGGGRVALTAPGAADAPGAGATAGIHWYSQLLYQIGTWLLDSEALHPLGMAVKSS*

Gene Symbol:SHH
Accession:XM_047420718
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 113
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNQWPGVKLRVTEGWDEDGHHSEESLHYEGRAVDITTSDRDRSKYGMLARLAVEAGFDWVYYESKAHIHCSVKAENSVAA
KSGGCFPGSATVHLEQGGTKLVKDLSPGDRVLTADDQGRLLYSDFLTFLDRDDGAKKVFYVIETREPRERLLLTAAHLLF
VAPHNDSATGEPEASSGSGPPSGGALGPRALFASRVRPGQRVYVVAERDGDRRLLPAAVHSVTLSEEAAGAYAPLTAQGT
ILINRVLASCYAVIEEHSWAHRAFAPFRLAHALLAALAPARTDRGGDSGGGDRGGGGGRVALTAPGAADAPGAGATAGIH
WYSQLLYQIGTWLLDSEALHPLGMAVKSS*

Gene Symbol:SHH
Accession:XM_011516480
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSLFPSPGPGSSRCKDKLNALAISVMNQWPGVKLRVTEGWDEDGHHSEESLHYEGRAVDITTSDRDRSKYGMLARLAVE
AGFDWVYYESKAHIHCSVKAENSVAAKSGGCFPGSATVHLEQGGTKLVKDLSPGDRVLTADDQGRLLYSDFLTFLDRDDG
AKKVFYVIETREPRERLLLTAAHLLFVAPHNDSATGEPEASSGSGPPSGGALGPRALFASRVRPGQRVYVVAERDGDRRL
LPAAVHSVTLSEEAAGAYAPLTAQGTILINRVLASCYAVIEEHSWAHRAFAPFRLAHALLAALAPARTDRGGDSGGGDRG
GGGGRVALTAPGAADAPGAGATAGIHWYSQLLYQIGTWLLDSEALHPLGMAVKSS*

Gene Symbol:SHH
Accession:XM_011516479
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSLFPSPGPGSSRCKDKLNALAISVMNQWPGVKLRVTEGWDEDGHHSEESLHYEGRAVDITTSDRDRSKYGMLARLAVE
AGFDWVYYESKAHIHCSVKAENSVAAKSGGCFPGSATVHLEQGGTKLVKDLSPGDRVLTADDQGRLLYSDFLTFLDRDDG
AKKVFYVIETREPRERLLLTAAHLLFVAPHNDSATGEPEASSGSGPPSGGALGPRALFASRVRPGQRVYVVAERDGDRRL
LPAAVHSVTLSEEAAGAYAPLTAQGTILINRVLASCYAVIEEHSWAHRAFAPFRLAHALLAALAPARTDRGGDSGGGDRG
GGGGRVALTAPGAADAPGAGATAGIHWYSQLLYQIGTWLLDSEALHPLGMAVKSS*

Gene Symbol:SHH
Accession:NM_001310462
Location:INTRON

Gene Symbol:SHH
Accession:NR_132319
Location:INTRON;NON-CODING

Gene Symbol:SHH
Accession:NR_132318
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9302262   PMID:15292211   PMID:22897141   PMID:25741868   PMID:28492532   PMID:29205322  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000009433 CLINVAR
  RCV001092783 CLINVAR
  RCV001813967 CLINVAR
dbSNP (RS) rs104894043 CLINVAR
MedGen C1840529 CLINVAR
  C3661900 CLINVAR
  C4540327 CLINVAR
NCBI Gene SHH CLINVAR
OMIM 142945 CLINVAR
  600725 CLINVAR
  617755 CLINVAR
OMIM Allele 600725.0007 CLINVAR