RGD:156276438 Rat Genome Database

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Variant: RGD:156276438 -  Homo sapiens

RGD ID: 156276438
ClinVar ID: CV2351936
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CISH  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 50,645,387
GRCh38 3 50,607,956
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_145071.4:c.428A>G
NM_013324.7:c.479A>G
NG_051548.1:g.1095T>C
NG_023194.1:g.8876A>G
More... 		04/07/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CISH
Accession:NM_145071
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 143
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLCVQGPRPLLAVERTGQRPLWAPSLELPKPVMQPLPAGAFLEEVAEGTPAQTESEPKVLDPEEDLLCIAKTFSYLRES
GWYWGSITASEARQHLQKMPEGTFLVRDSTHPSYLFTLSVKTTRGPTNVRIEYADSSFRLDSSCLSRPRILAFPDVVSLV
QHYVASCTADTRSDSPDPAPTPALPMPKEDAPSDPALPAPPPATAVHLKLVQPFVRRSSARSLQHLCRLVINRLVADVDC
LPLPRRMADYLRQYPFQL*

Gene Symbol:CISH
Accession:NM_013324
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 160
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYLEHTSHCPHHDDDTAMDTPLPRPRPLLAVERTGQRPLWAPSLELPKPVMQPLPAGAFLEEVAEGTPAQTESEPKVLDP
EEDLLCIAKTFSYLRESGWYWGSITASEARQHLQKMPEGTFLVRDSTHPSYLFTLSVKTTRGPTNVRIEYADSSFRLDSS
CLSRPRILAFPDVVSLVQHYVASCTADTRSDSPDPAPTPALPMPKEDAPSDPALPAPPPATAVHLKLVQPFVRRSSARSL
QHLCRLVINRLVADVDCLPLPRRMADYLRQYPFQL*

Gene Symbol:CISH
Accession:XM_047447398
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 160
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYLEHTSHCPHHDDDTAMDTPLPRPRPLLAVERTGQRPLWAPSLELPKPVMQPLPAGAFLEEVAEGTPAQTESEPKVLDP
EEDLLCIAKTFSYLRESGWYWGSITASEARQHLQKMPEGTFLVRDSTHPSYLFTLSVKTTRGPTNVRIEYADSSFRLDSS
CLSRPRILAFPDVVSLVQHYVASCTADTRSDSPDPAPTPALPMPKEDAPSDPALPAPPPATAVHLKLVQPFVRRSSARSL
QHLCRLVINRLVADVDCLPLPRRMADYLRQYPFQL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004198072 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CISH CLINVAR
OMIM 602441 CLINVAR