RGD:15177781 Rat Genome Database

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Variant: RGD:15177781 -  Homo sapiens

RGD ID: 15177781
RS ID: rs142841879
ClinVar ID: CV728755
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHGB  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 5,903,932
GRCh38 20 5,923,286
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001819.3:c.1142G>T
NG_042285.1:g.16959G>T
NC_000020.11:g.5923286G>T
NC_000020.10:g.5903932G>T
More... 		04/10/2018 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CHGB
Accession:NM_001819
Location:EXON
Amino Acid Prediction: W to L (nonsynonymous)
Amino Acid Position: 381
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQPTLLLSLLGAVGLAAVNSMPVDNRNHNEGMVTRCIIEVLSNALSKSSAPPITPECRQVLKTSRKDVKDKETTENENTK
FEVRLLRDPADASEAHESSSRGEAGAPGEEDIQGPTKADTEKWAEGGGHSRERADEPQWSLYPSDSQVSEEVKTRHSEKS
QREDEEEEEGENYQKGERGEDSSEEKHLEEPGETQNAFLNERKQASAIKKEELVARSETHAAGHSQEKTHSREKSSQESG
EETGSQENHPQESKGQPRSQEESEEGEEDATSEVDKRRTRPRHHHGRSRPDRSSQGGSLPSEEKGHPQEESEESNVSMAS
LGEKRDHHSTHYRASEEEPEYGEEIKGYPGVQAPEDLEWERYRGRGSEEYRAPRPQSEESLDEEDKRNYPSLELDKMAHG
YGEESEEERGLEPGKGRHHRGRGGEPRAYFMSDTREEKRFLGEGHHRVQENQMDKARRHPQGAWKELDRNYLNYGEEGAP
GKWQQQGDLQDTKENREEARFQDKQYSSHHTAEKRKRLGELFNPYYDPLQWKSSHFERRDNMNDNFLEGEEENELTLNEK
NFFPEYNYDWWEKKPFSEDVNWGYEKRNLARVPKLDLKRQYDRVAQLDQLLHYRKKSAEFPDFYDSEEPVSTHQEAENEK
DRADQTVLTEDEKKELENLAAMDLELQKIAEKFSQRG*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000884908 CLINVAR
  RCV003930633 CLINVAR
dbSNP (RS) rs142841879 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CHGB CLINVAR
OMIM 118920 CLINVAR