RGD:150431624 Rat Genome Database

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Pathways
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Variant: RGD:150431624 -  Homo sapiens

RGD ID: 150431624
RS ID: rs771456188
ClinVar ID: CV1245975
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MSH4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 76,378,489
GRCh38 1 75,912,804
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002440.4:c.2728C>T
NG_029861.1:g.120934C>T
NC_000001.10:g.76378489C>T
NP_002431.2:p.Arg910Ter
More... 		10/01/2019 nonsense pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MSH4
Accession:NM_002440
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 910
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRPEISSTSPSAPAVSPSSGETRSPQGPRYNFGLQETPQSRPSVQVVSASTCPGTSGAAGDRSSSSSSLPCPAPNSRPA
QGSYFGNKRAYAENTVASNFTFGASSSSARDTNYPQTLKTPLSTGNPQRSGYKSWTPQVGYSASSSSAISAHSPSVIVAV
VEGRGLARGEIGMASIDLKNPQIILSQFADNTTYAKVITKLKILSPLEIIMSNTACAVGNSTKLFTLITENFKNVNFTTI
QRKYFNETKGLEYIEQLCIAEFSTVLMEVQSKYYCLAAVAALLKYVEFIQNSVYAPKSLKICFQGSEQTAMIDSSSAQNL
ELLINNQDYRNNHTLFGVLNYTKTPGGSRRLRSNILEPLVDIETINMRLDCVQELLQDEELFFGLQSVISRFLDTEQLLS
VLVQIPKQDTVNAAESKITNLIYLKHTLELVDPLKIAMKNCNTPLLRAYYGSLEDKRFGIILEKIKTVINDDARYMKGCL
NMRTQKCYAVRSNINEFLDIARRTYTEIVDDIAGMISQLGEKYSLPLRTSFSSARGFFIQMTTDCIALPSDQLPSEFIKI
SKVKNSYSFTSADLIKMNERCQESLREIYHMTYMIVCKLLSEIYEHIHCLYKLSDTVSMLDMLLSFAHACTLSDYVRPEF
TDTLAIKQGWHPILEKISAEKPIANNTYVTEGSNFLIITGPNMSGKSTYLKQIALCQIMAQIGSYVPAEYSSFRIAKQIF
TRISTDDDIETNSSTFMKEMKEIAYILHNANDKSLILIDELGRGTNTEEGIGICYAVCEYLLSLKAFTLFATHFLELCHI
DALYPNVENMHFEVQHVKNTSRNKEAILYTYKLSKGLTEEKNYGLKAAEVSSLPPSIVLDAKEITTQITRQILQNQRSTP
EMERQRAVYHLATRLVQTARNSQLDPDSL*IYLSNLKKKYKEDFPRTEQVPEKTEE*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001663389 CLINVAR
dbSNP (RS) rs771456188 CLINVAR
MedGen C5816691 CLINVAR
NCBI Gene MSH4 CLINVAR
OMIM 602105 CLINVAR