RGD:11541269 Rat Genome Database

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Variant: RGD:11541269 -  Homo sapiens

RGD ID: 11541269
RS ID: rs530970423
ClinVar ID: CV248544
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSPB7  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 16,342,146
GRCh38 1 16,015,651
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NC_000001.11:g.16015651T>C
NC_000001.10:g.16342146T>C
NP_055239.1:p.Thr148Ala
NP_001336614.1:p.Thr142Ala
More... 		08/12/2016 missense variant likely benign neonatal Absence or underdevelopment of the 6th and 7th cranial nerves; Congenital facial diplegia syndrome; Congenital oculofacial paralysis; Moebius Sequence; Möbius Syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HSPB7
Accession:NM_001349687
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 143
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHRTSSTFRAERSFHSSSSSSSSSTSSSASRALPAQDPPMEKALSMFSDDFGSFMRPHSEPLAFPARPGGAGNIKTLGD
AYEFAVDVRDFSPEDIIVTTSNNHIELAADGTVMNTFAHKCQLPEDVDPTSVTSALREDGSLAIRARRHPHTEHVQQTFR
TEIKI*

Gene Symbol:HSPB7
Accession:NM_001349689
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 153
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHRTSSTFRAERSFHSSSSSSSSSTSSSASRALPAQDPPMEKALSMFSDDFGSFMRPHSEPLAFPAAHPTARPGGAGNI
KTLGDAYEFAVDVRDFSPEDIIVTTSNNHIEVRAEKLAADGTVMNTFAHKCQLPEDVDPTSVTSALREDGSLAIRARRHP
HTEHVQQTFRTEIKI*

Gene Symbol:HSPB7
Accession:NM_014424
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 148
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHRTSSTFRAERSFHSSSSSSSSSTSSSASRALPAQDPPMEKALSMFSDDFGSFMRPHSEPLAFPARPGGAGNIKTLGD
AYEFAVDVRDFSPEDIIVTTSNNHIEVRAEKLAADGTVMNTFAHKCQLPEDVDPTSVTSALREDGSLAIRARRHPHTEHV
QQTFRTEIKI*

Gene Symbol:HSPB7
Accession:NM_001349685
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 142
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHRTSSTFRAERSFHSSSSSSSSSTSSSASRALPAQDPPMEKALSMFSDDFGSFMRPHSEPLAFPGNIKTLGDAYEFAV
DVRDFSPEDIIVTTSNNHIEVRAEKLAADGTVMNTFAHKCQLPEDVDPTSVTSALREDGSLAIRARRHPHTEHVQQTFRT
EIKI*

Gene Symbol:HSPB7
Accession:NM_001349683
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHRTSSTFRAERSFHSSSSSSSSSTSSSASRALPAQDPPMEKALSMFSDDFGSFMRPHSEPLAFPAHPTARPGGAGNIK
TLGDAYEFAVDVRDFSPEDIIVTTSNNHIEVRAEKLAADGTVMNTFAHKCQLPEDVDPTSVTSALREDGSLAIRARRHPH
TEHVQQTFRTEIKI*

Gene Symbol:HSPB7
Accession:NM_001349682
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 223
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRQVNPRPRGNCQLDREEGTQQRVTAHRKTMSHCQVLWEDKDSQCWGHLDWVWAHVSRSSQRGLPGGGGIGADLGRKGR
IWRGQQRPLTATWAEQRAWPPLRMASTLAQGKDPPMEKALSMFSDDFGSFMRPHSEPLAFPARPGGAGNIKTLGDAYEFA
VDVRDFSPEDIIVTTSNNHIEVRAEKLAADGTVMNTFAHKCQLPEDVDPTSVTSALREDGSLAIRARRHPHTEHVQQTFR
TEIKI*

Gene Symbol:HSPB7
Accession:NM_001349686
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHRTSSTFRAERSFHSSSSSSSSSTSSSASRALPAQDPPMEKALSMFSDDFGSFMRPHSEPLAFPARPGGAGNIKTLGD
AYEFAVDVRDFSPEDIIVTTSNNHIEVRAEKCQLPEDVDPTSVTSALREDGSLAIRARRHPHTEHVQQTFRTEIKI*

Gene Symbol:HSPB7
Accession:NM_001349688
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 147
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHRTSSTFRAERSFHSSSSSSSSSTSSSASRALPAQDPPMEKALSMFSDDFGSFMRPHSEPLAFPAHPTARPGGAGNIK
TLGDAYEFAVDVRDFSPEDIIVTTSNNHIELAADGTVMNTFAHKCQLPEDVDPTSVTSALREDGSLAIRARRHPHTEHVQ
QTFRTEIKI*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000239981 CLINVAR
dbSNP (RS) rs530970423 CLINVAR
MedGen C0221060 CLINVAR
NCBI Gene HSPB7 CLINVAR
OMIM 157900 CLINVAR
  610692 CLINVAR
SNOMED CT 89444000 CLINVAR