RGD:8616938 Rat Genome Database

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Variant: RGD:8616938 -  Homo sapiens

RGD ID: 8616938
RS ID: rs386833656
ClinVar ID: CV70844
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PPT1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 40,546,138
GRCh38 1 40,080,466
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009192.1:g.22005G>A
NC_000001.11:g.40080466C>T
NC_000001.10:g.40546138C>T
NP_000301.1:p.Trp186Ter
More...
nonsense|stop-gain likely pathogenic 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); 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: W to * (nonsynonymous)
Amino Acid Position: 83
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASPGCLWLLAVALLPWTCASRALQHLDPPAPLPLVIWHGMGVFGLPRCPGESSHICDFIRKTLNAGAYSKVVQERLVQA
EY*HDPIKEDVYRNHSIFLADINQERGINESYKKNLMALKKFVMVKFLNDSIVDPVDSEWFGFYRSGQAKETIPLQETSL
YTQDRLGLKEMDNAGQLVFLATEGDHLQLSEEWFYAHIIPFLG*

Gene Symbol:PPT1
Accession:NM_000310
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 186
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASPGCLWLLAVALLPWTCASRALQHLDPPAPLPLVIWHGMGDSCCNPLSMGAIKKMVEKKIPGIYVLSLEIGKTLMEDV
ENSFFLNVNSQVTTVCQALAKDPKLQQGYNAMGFSQGGQFLRAVAQRCPSPPMINLISVGGQHQGVFGLPRCPGESSHIC
DFIRKTLNAGAYSKVVQERLVQAEY*HDPIKEDVYRNHSIFLADINQERGINESYKKNLMALKKFVMVKFLNDSIVDPVD
SEWFGFYRSGQAKETIPLQETSLYTQDRLGLKEMDNAGQLVFLATEGDHLQLSEEWFYAHIIPFLG*

Gene Symbol:PPT1
Accession:NM_001363695
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 186
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASPGCLWLLAVALLPWTCASRALQHLDPPAPLPLVIWHGMGDSCCNPLSMGAIKKMVEKKIPGIYVLSLEIGKTLMEDV
ENSFFLNVNSQVTTVCQALAKDPKLQQGYNAMGFSQGGQFLRAVAQRCPSPPMINLISVGGQHQGVFGLPRCPGESSHIC
DFIRKTLNAGAYSKVVQERLVQAEY*HDPIKEDVYRNHSIFLADINQERGINESYKKNLMALKKFVMVKFLNDSIVDPVD
SEDRLGLKEMDNAGQLVFLATEGDHLQLSEEWFYAHIIPFLG*

Variant Samples
Additional References at PubMed
PMID:21990111  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000049616 CLINVAR
dbSNP (RS) rs386833656 CLINVAR
MedGen C1850451 CLINVAR
NCBI Gene PPT1 CLINVAR
OMIM 256730 CLINVAR
  600722 CLINVAR