RGD:12848921 Rat Genome Database

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Variant: RGD:12848921 -  Homo sapiens

RGD ID: 12848921
RS ID: rs764051026
ClinVar ID: CV365147
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PPT1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 40,542,572
GRCh38 1 40,076,900
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_690t1:c.740A>G
LRG_690:g.25571A>G
NG_009192.1:g.25571A>G
NC_000001.11:g.40076900T>C
More... 		11/10/2020 intron variant|missense variant likely pathogenic|uncertain significance Adult CLN (type of CLN1); CEROID LIPOFUSCINOSIS, NEURONAL, 1, VARIABLE AGE AT ONSET; Classic late infantile CLN (type of CLN1); CLN1 variable age at onset; Infantile CLN (type of CLN1); Juvenile CLN (type of CLN1); none provided; PPT1-Related Neuronal Ceroid-Lipofuscinosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PPT1
Accession:NM_001142604
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 144
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASPGCLWLLAVALLPWTCASRALQHLDPPAPLPLVIWHGMGVFGLPRCPGESSHICDFIRKTLNAGAYSKVVQERLVQA
EYWHDPIKEDVYRNHSIFLADINQERGINESYKKNLMALKKFVMVKFLNDSIVDPVDSEWFGFCRSGQAKETIPLQETSL
YTQDRLGLKEMDNAGQLVFLATEGDHLQLSEEWFYAHIIPFLG*

Gene Symbol:PPT1
Accession:NM_000310
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 247
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASPGCLWLLAVALLPWTCASRALQHLDPPAPLPLVIWHGMGDSCCNPLSMGAIKKMVEKKIPGIYVLSLEIGKTLMEDV
ENSFFLNVNSQVTTVCQALAKDPKLQQGYNAMGFSQGGQFLRAVAQRCPSPPMINLISVGGQHQGVFGLPRCPGESSHIC
DFIRKTLNAGAYSKVVQERLVQAEYWHDPIKEDVYRNHSIFLADINQERGINESYKKNLMALKKFVMVKFLNDSIVDPVD
SEWFGFCRSGQAKETIPLQETSLYTQDRLGLKEMDNAGQLVFLATEGDHLQLSEEWFYAHIIPFLG*

Gene Symbol:PPT1
Accession:NM_001363695
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9664077   PMID:11440996   PMID:23857568   PMID:28492532   PMID:29631617   PMID:29655203  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000420750 CLINVAR
  RCV001341505 CLINVAR
dbSNP (RS) rs764051026 CLINVAR
MedGen C1850451 CLINVAR
  C3661900 CLINVAR
NCBI Gene PPT1 CLINVAR
OMIM 256730 CLINVAR
  600722 CLINVAR