RGD:13828620 Rat Genome Database

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Pathways
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Variant: RGD:13828620 -  Homo sapiens

RGD ID: 13828620
RS ID: rs1026107866
ClinVar ID: CV580536
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126863188  SHANK3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 51,142,344
GRCh38 22 50,703,916
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_033517.1:c.1669G>A
NC_000022.11:g.50703916G>A
NC_000022.10:g.51142344G>A
NP_277052.1:p.Asp557Asn
More... 		05/31/2017 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SHANK3
Accession:NM_001372044
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 620

TRANSCRIPT MAY BE FAULTY. PLEASE CHECK WITH NCBI FOR CORRECTIONS
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQLSRAAAAAAAAPAEPPEPLSPAPAPAPAPPGPLPRSAADGAPAGGKGGPGRRARSPRALRSPARAAPARAPARGWTAP
GPAPWSCASASRTCSRRSACAWTRPRPCGPPSSACSAPSTTASRTRSTMGFSSRPPGAAPASSWMRSGSCRSTRPTWTRP
CPTWSFDTSGEFMPRTSSMISSLQSFTQRRT*RSSWTTSSCIARTRWHACWTRGWTPTSMTLTQESAP*ASQPSWTTPRT
C*RC*RMVVPTWTSALAMGSLPCTVPHASGMRQH*RPCWTWGLHLTTRTAAA*HPSTTAPWGVGMPSAVSCFSTTTLSWG
SPTRMAGRRSTRPAALGTCSIWSTCCSMGQTWGPRTPRGTQPCTSVPSTTRRAVLVSCSSVELTGMSATTTARQPSRWPS
SQGTLSLQRLSRPTKTRMLYHSGKPPAMRSGGDWLAPVAWHPLGLCSAQPAIST*RGRHSQQLLLDPR*EASPTSCCSSG
CKRRKIVTGMPTRRATSVAL*QAGPAKARSSVPRAPCAPRTAAPGPEAETLQRRPRPQVHRREGAQPAG*RRDPAAPRRG
REGAQHWGGRFLGGNRERPHGLVPGRLRGGSADEAA*HTA*NAGGPDEAALSALHSGLLQQPHLTQRLCH**QSGCPAET
GPRGLWFCAPGSQSRDPHRGVHAHASLPGAAVSRVGGRGGCGLEGRAAHGRLPHRGERGERGEGRTQAGGGSDSPGWQPP
RHEGCVCDKEARRGRGSAQSPTAPQEGPQHHTDPALQVHDS*ARGTCLHSEKKRGEAGRDAGSRRRANAAARHRRRRLQS
RHRQTEAHQSEDHTRRD*LIV*TPGPPRPREAAGLLAEGDSTDQVCRGGREAGVPAGRALPAEHLDARPGARGSRHPAPA
ADRAASPARALLLRLGAAPGLLAAAPAGPRLRHGALQLQARPGGAPGRGRCRPVRAGRGPRPAAVSRAAEARALHDHPAG
LGARVGRRPSTPARGHPARATQAPAAAARPRQPLRQPGRLQRQPLRSVQAAAPQEPPGEAAAGGGRAGARGPGRGQPRSR
RRQLRPRALPDPPRSAPGWPRLRRGRWPGARVRRPGPGQGPAAGGAAPLHCVPVRGGHRGQRPRRGSAIPTALPLHRRAP
PGDRPHRRPRPAAALPGVCPEAVGQRPEPGALGFHLHPPTHRQTPGPQLTPGPCPGCPRASSGLPGALPVPHTRAQSRRR
PPRTPVCGCTGPGPRARVPGFPGFLPTEPSLDSCACSQGGREGPPGGAEVTRGQEVHDPQRPGHIPAAASWPHRCARHQQ
RAGAQQAGGGRRGAPGHPGVGPGPHAVSGCGRAPAQPPGPAPWWHPGRRRARPGQLRGRARAGVCCEPATCPAVVQR*GD
QGGAGPNWVGATP*RVCQRGPAGHPTRWPGPLAHHGAQPGLREAQQ*ATPCP*VCSRLWGGGG*HTQLQRPPPGDHKHHL
HGVQHVHLELGERGTH*HPHLLR*RTHFSTREATSASQAQAQVPAGEGAGDLQGPAAEAVLGQRAHGPAAPRRLCRAGLC
RRACPPSLPLPEKVQAMGGPRGEPGAPWA*RRQTNCDQ*AQLPPAAAEQGHAFPGGGTSWWPGQPAGPCQEVAHRSSSAL
QQPR*AELHFSAAQPRGPGRRGLVLGEAQWPLPRGETRPEPGEARVAGAGGGAGGGRGGRRAALRPHAPHHPQVVQPLHP
ARAQGGALRGAQRERAQSLPLAVAAALARVRPRPRRPRPTPTLPAEAAAALEQVRRGRLAGEHPPRRAPRPLRGP*DRRR
APTRAYQGRLRGAGRHARGPPHEHRARAQAAGRQL
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002318632 CLINVAR
dbSNP (RS) rs1026107866 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene LOC126863188 CLINVAR
  SHANK3 CLINVAR
OMIM 606230 CLINVAR