RGD:156338744 Rat Genome Database

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Variant: RGD:156338744 -  Homo sapiens

RGD ID: 156338744
ClinVar ID: CV2351472
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127894992  PTTG1IP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 46,293,522
GRCh38 21 44,873,607
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001286822.2:c.10G>A
NM_004339.4:c.10G>A
NG_144621.1:g.396C>T
NG_033966.1:g.5297G>A
More... 		09/01/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PTTG1IP
Accession:NM_004339
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 4
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPRVARGPTPYWRLRLGGAALLLLLIPVAAAQEPPGAACSQNTNKTCEECLKNVSCLWCNTNKACLDYPVTSVLPPASL
CKLSSARWGVCWVNFEALIITMSVVGGTLLLGIAICCCCCCRRKRSRKPDRSEEKAMREREERRIRQEERRAEMKTRHDE
IRKKYGLFKEENPYARFENN*

Gene Symbol:PTTG1IP
Accession:NM_001286822
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 4
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPRVARGPTPYWRLRLGGAALLLLLIPVAAAQEPPGAACSQNTNKTCEECLKNVSACLKKKTRMLDLKTTKALQHISPD
ASCEVHAPQPSPAGRPRGHCGLLTLASEPASLPGQAAGELPLKDSPLVLQTGDLLFPVHLCF*

Gene Symbol:PTTG1IP
Accession:NR_104597
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004193156 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PTTG1IP CLINVAR
OMIM 603784 CLINVAR