RGD:597709715 Rat Genome Database

RGD:597709715 Rat Genome Database

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Variant: RGD:597709715 - Homo sapiens

RGD ID:

597709715

ClinVar ID:

CV3594294

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	6	4,996,496
GRCh38	6	4,996,262

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NP_001273061.1:p.Leu217Phe NP_006629.2:p.Leu240Phe NM_001286133.2:c.592C>T NM_001286132.2:c.649C>T More...	08/01/2024	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	RPP40
Accession:	NM_006638
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	240

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATLRRLREAPRHLLVCEKSNFGNHKSRHRHLVQTHYYNYRVSFLIPECGILSEELKNLVMNTGPYYFVKNLPLHELITP EFISTFIKKGSCYALTYNTHIDEDNTVALLPNGKLILSLDKDTYEETGLQGHPSQFSGRKIMKFIVSIDLMELSLNLDSK KYERISWSFKEKKPLKFDFLLAWHKTGSEESTMMSYFSKYQIQEHQPKVALSTLRDLQCPVLQSSELEGTPEVSCRALEF FDWLGAVFSNVDLNNEPNNFISTYCCPEPSTVVAKAYLCTITGFILPEKICLLLEHLCHYFDEPKLAPWVTLSVQGFADS PVSWEKNEHGFRKGGEHLYNFVIFNNQDYWLQMAVGANDHCPP*

Gene Symbol:	RPP40
Accession:	NM_001286132
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	217

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATLRRLREAPRHLLVCEKSNFGNHKSRHRHLVQTHYYNYRVSFLIPECGILSEELKNLVMNTGPYYFVKNLPLHELITP EFISTFIKKGKLILSLDKDTYEETGLQGHPSQFSGRKIMKFIVSIDLMELSLNLDSKKYERISWSFKEKKPLKFDFLLAW HKTGSEESTMMSYFSKYQIQEHQPKVALSTLRDLQCPVLQSSELEGTPEVSCRALEFFDWLGAVFSNVDLNNEPNNFIST YCCPEPSTVVAKAYLCTITGFILPEKICLLLEHLCHYFDEPKLAPWVTLSVQGFADSPVSWEKNEHGFRKGGEHLYNFVI FNNQDYWLQMAVGANDHCPP*

Gene Symbol:	RPP40
Accession:	NM_001286133
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	198

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATLRRLREAPRHLLVCEKSNFGNHKSRHRHLVQTHYYNYRVSFLIPECGILSEELKNLVMNTGPYYFVKNLPLHELITP EFISTFIKKGSCYALTYNTHIDEDNTVALLPNGKLILSLDKDTYEETGLQGHPSQFSGRKIMKFSSEESTMMSYFSKYQI QEHQPKVALSTLRDLQCPVLQSSELEGTPEVSCRALEFFDWLGAVFSNVDLNNEPNNFISTYCCPEPSTVVAKAYLCTIT GFILPEKICLLLEHLCHYFDEPKLAPWVTLSVQGFADSPVSWEKNEHGFRKGGEHLYNFVIFNNQDYWLQMAVGANDHCP P*

Gene Symbol:	RPP40
Accession:	XM_011514253
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	240

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATLRRLREAPRHLLVCEKSNFGNHKSRHRHLVQTHYYNYRVSFLIPECGILSEELKNLVMNTGPYYFVKNLPLHELITP EFISTFIKKGSCYALTYNTHIDEDNTVALLPNGKLILSLDKDTYEETGLQGHPSQFSGRKIMKFIVSIDLMELSLNLDSK KYERISWSFKEKKPLKFDFLLAWHKTGSEESTMMSYFSKYQIQEHQPKVALSTLRDLQCPVLQSSELEGTPEVSCRALEF FDWLGAVFSNVDLNNEPNNFISTYCCPEPSTVVAKAYLCTITGFILPEKICLLLEHLW*

Gene Symbol:	RPP40
Accession:	XM_024446309
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	198

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATLRRLREAPRHLLVCEKSNFGNHKSRHRHLVQTHYYNYRVSFLIPECGILSEELKNLVMNTGPYYFVKNLPLHELITP EFISTFIKKGSCYALTYNTHIDEDNTVALLPNGKLILSLDKDTYEETGLQGHPSQFSGRKIMKFSSEESTMMSYFSKYQI QEHQPKVALSTLRDLQCPVLQSSELEGTPEVSCRALEFFDWLGAVFSNVDLNNEPNNFISTYCCPEPSTVVAKAYLCTIT GFILPEKICLLLEHLW*

Gene Symbol:	RPP40
Accession:	XM_047418096
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	217

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATLRRLREAPRHLLVCEKSNFGNHKSRHRHLVQTHYYNYRVSFLIPECGILSEELKNLVMNTGPYYFVKNLPLHELITP EFISTFIKKGKLILSLDKDTYEETGLQGHPSQFSGRKIMKFIVSIDLMELSLNLDSKKYERISWSFKEKKPLKFDFLLAW HKTGSEESTMMSYFSKYQIQEHQPKVALSTLRDLQCPVLQSSELEGTPEVSCRALEFFDWLGAVFSNVDLNNEPNNFIST YCCPEPSTVVAKAYLCTITGFILPEKICLLLEHLW*

Gene Symbol:	RPP40
Accession:	XM_047418095
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	175

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATLRRLREAPRHLLVCEKSNFGNHKSRHRHLVQTHYYNYRVSFLIPECGILSEELKNLVMNTGPYYFVKNLPLHELITP EFISTFIKKGKLILSLDKDTYEETGLQGHPSQFSGRKIMKFSSEESTMMSYFSKYQIQEHQPKVALSTLRDLQCPVLQSS ELEGTPEVSCRALEFFDWLGAVFSNVDLNNEPNNFISTYCCPEPSTVVAKAYLCTITGFILPEKICLLLEHLCHYFDEPK LAPWVTLSVQGFADSPVSWEKNEHGFRKGGEHLYNFVIFNNQDYWLQMAVGANDHCPP*

Gene Symbol:	RPP40
Accession:	XR_926031
Location:	EXON;NON-CODING

Gene Symbol:	RPP40
Accession:	XR_007059200
Location:	EXON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004860871	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	RPP40	CLINVAR
OMIM	606117	CLINVAR