RGD:401897997 Rat Genome Database

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Variant: RGD:401897997 -  Homo sapiens

RGD ID: 401897997
ClinVar ID: CV2769958
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127887104  MAPT-AS1  SPPL2C  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 43,922,729
GRCh38 17 45,845,363
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_175882.3:c.457C>G
NG_136780.1:g.661C>G
NC_000017.11:g.45845363C>G
NC_000017.10:g.43922729C>G
More... 		07/10/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SPPL2C
Accession:NM_175882
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 153
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MACLGFLLPVGFLLLISTVAGGKYGVAHVVSENWSKDYCILFSSDYITLPRDLHHAPLLPLYDGTKAPWCPGEDSPHQAQ
LRSPSQRPLRQTTAMVMRGNCSFHTKGWLAQGQGAHGLLIVSRVSDQQCSDTTLAPQDPRQPLADLTIPVAMVHYADMLD
ILSHTRGEAVVRVAMYAPPEPIIDYNMLVIFILAVGTVAAGGYWAGLTEANRLQRRRARRGGGSGGHHQLQEAAAAEGAQ
KEDNEDIPVDFTPAMTGVVVTLSCSLMLLLYFFYDHFVYVTIGIFGLGAGIGLYSCLSPLVCRLSLRQYQRPPHSLWASL
PLPLLLLASLCATVIIFWVAYRNEDRWAWLLQDTLGISYCLFVLHRVRLPTLKNCSSFLLALLAFDVFFVFVTPFFTKTG
ESIMAQVALGPAESSSHERLPMVLKVPRLRVSALTLCSQPFSILGFGDIVVPGFLVAYCCRFDVQVCSRQIYFVACTVAY
AVGLLVTFMAMVLMQMGQPALLYLVSSTLLTSLAVAACRQELSLFWTGQGRAKMCGLGCAPSAGSRQKQEGAADAHTAST
LERGTSRGAGDLDSNPGEDTTEIVTISENEATNPEDRSDSSEGWSDAHLDPNELPFIPPGASEELMPLMPMAMLIPLMPL
MPPPSELGHVHAQAQAHETGLPWAGLHKRKGLKVRKSMSTQAPL*

Gene Symbol:MAPT-AS1
Accession:NR_024559
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004353793 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MAPT-AS1 CLINVAR
  SPPL2C CLINVAR
OMIM 608284 CLINVAR