RGD:11642476 Rat Genome Database

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Variant: RGD:11642476 -  Homo sapiens

RGD ID: 11642476
RS ID: rs778370524
ClinVar ID: CV271455
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PANK2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 3,891,316
GRCh38 20 3,910,669
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001324191.2:c.201A>C
NM_024960.6:c.201A>C
NR_136715.2:n.645A>C
NP_001311120.1:p.Ser67=
More... 		10/10/2022 5 prime utr variant likely benign|conflicting interpretations of pathogenicity|uncertain significance Hallervorden-Spatz disease; HARP SYNDROME; Neuroaxonal dystrophy, late infantile; Neurodegeneration with brain iron accumulation 1; none provided; PKAN NEUROAXONAL DYSTROPHY, JUVENILE-ONSET
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PANK2
Accession:NM_001324193
Location:5UTRS;EXON

Gene Symbol:PANK2
Accession:NM_153638
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 358
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRRLGPFHPRVHWAAPPSLSSGLHRLLFLRGTRIPSSTTLSPPRHDSLSLDGGTVNPPRVREPTGREAFGPSPASSDWLP
ARWRNGRGGRPRARLCSGWTAAEEARRNPTLGGLLGRQRLLLRMGGGRLGAPMERHGRASATSVSSAGEQAAGDPEGRRQ
EPLRRRASSASVPAVGASAEGTRRDRLGSYSGPTSVSRQRVESLRKKRPLFPWFGLDIGGTLVKLVYFEPKDITAEEEEE
EVESLKSIRKYLTSNVAYGSTGIRDVHLELKDLTLCGRKGNLHFIRFPTHDMPAFIQMGRDKNFSSLHTVFCATGGGAYK
FEQDFLTIGDLQLCKLDELDCLIKGILYIDSVGFNGRSQCYYFENPADSEKCQKLPFDLKNPYPLLLVNIGSGVSILAVY
SKDNYKRVTGTSLGGGTFFGLCCLLTGCTTFEEALEMASRGDSTKVDKLVRDIYGGDYERFGLPGWAVASSFGNMMSKEK
REAVSKEDLARATLITITNNIGSIARMCALNENINQVVFVGNFLRINTIAMRLLAYALDYWSKGQLKALFSEHEGYFGAV
GALLELLKIP*

Gene Symbol:PANK2
Accession:NM_153640
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAFIQMGRDKNFSSLHTVFCATGGGAYKFEQDFLTIGDLQLCKLDELDCLIKGILYIDSVGFNGRSQCYYFENPADSEK
CQKLPFDLKNPYPLLLVNIGSGVSILAVYSKDNYKRVTGTSLGGGTFFGLCCLLTGCTTFEEALEMASRGDSTKVDKLVR
DIYGGDYERFGLPGWAVASSFGNMMSKEKREAVSKEDLARATLITITNNIGSIARMCALNENINQVVFVGNFLRINTIAM
RLLAYALDYWSKGQLKALFSEHEGYFGAVGALLELLKIP*

Gene Symbol:PANK2
Accession:NM_001324191
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAFIQMGRDKNFSSLHTVFCATGGGAYKFEQDFLTIGDLQLCKLDELDCLIKGILYIDSVGFNGRSQCYYFENPADSEK
CQKLPFDLKNPYPLLLVNIGSGVSILAVYSKDNYKRVTGTSLGGGTFFGLCCLLTGCTTFEEALEMASRGDSTKVDKLVR
DIYGGDYERFGLPGWAVASSFGNMMSKEKREAVSKEDLARATLITITNNIGSIARMCALNENINQVVFVGNFLRINTIAM
RLLAYALDYWSKGQLKALFSEHEGYFGAVGALLELLKIP*

Gene Symbol:PANK2
Accession:NM_024960
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAFIQMGRDKNFSSLHTVFCATGGGAYKFEQDFLTIGDLQLCKLDELDCLIKGILYIDSVGFNGRSQCYYFENPADSEK
CQKLPFDLKNPYPLLLVNIGSGVSILAVYSKDNYKRVTGTSLGGGTFFGLCCLLTGCTTFEEALEMASRGDSTKVDKLVR
DIYGGDYERFGLPGWAVASSFGNMMSKEKREAVSKEDLARATLITITNNIGSIARMCALNENINQVVFVGNFLRINTIAM
RLLAYALDYWSKGQLKALFSEHEGYFGAVGALLELLKIP*

Gene Symbol:PANK2
Accession:NM_001386393
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 248
Amino Acid Sequence
(Calculated using NCBI transcript definition)
LGGLLGRQRLLLRMGGGRLGAPMERHGRASATSVSSAGEQAAGDPEGRRQEPLRRRASSASVPAVGASAEGTRRDRLGSY
SGPTSVSRQRVESLRKKRPLFPWFGLDIGGTLVKLVYFEPKDITAEEEEEEVESLKSIRKYLTSNVAYGSTGIRDVHLEL
KDLTLCGRKGNLHFIRFPTHDMPAFIQMGRDKNFSSLHTVFCATGGGAYKFEQDFLTIGDLQLCKLDELDCLIKGILYID
SVGFNGRSQCYYFENPADSEKCQKLPFDLKNPYPLLLVNIGSGVSILAVYSKDNYKRVTGTSLGGGTFFGLCCLLTGCTT
FEEALEMASRGDSTKVDKLVRDIYGGDYERFGLPGWAVASSFGNMMSKEKREAVSKEDLARATLITITNNIGSIARMCAL
NENINQVVFVGNFLRINTIAMRLLAYALDYWSKGQLKALFSEHEGYFGAVGALLELLKIP*

Gene Symbol:PANK2
Accession:NR_136715
Location:EXON;NON-CODING

Gene Symbol:PANK2
Accession:NM_001324192
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000376324 CLINVAR
  RCV002519282 CLINVAR
dbSNP (RS) rs778370524 CLINVAR
MedGen C0018523 CLINVAR
  C3661900 CLINVAR
NCBI Gene PANK2 CLINVAR
OMIM 234200 CLINVAR
  606157 CLINVAR
SNOMED CT 2992000 CLINVAR