RGD:597709697 Rat Genome Database

RGD:597709697 Rat Genome Database

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Variant: RGD:597709697 - Homo sapiens

RGD ID:

597709697

ClinVar ID:

CV3594291

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	6	5,000,091
GRCh38	6	4,999,857

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001286132.2:c.316C>T NM_001286133.2:c.385C>T NM_006638.4:c.385C>T NC_000006.12:g.4999857G>A More...	10/25/2024	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	RPP40
Accession:	NM_006638
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	129

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATLRRLREAPRHLLVCEKSNFGNHKSRHRHLVQTHYYNYRVSFLIPECGILSEELKNLVMNTGPYYFVKNLPLHELITP EFISTFIKKGSCYALTYNTHIDEDNTVALLPNGKLILSLDKDTYEETGFQGHPSQFSGRKIMKFIVSIDLMELSLNLDSK KYERISWSFKEKKPLKFDFLLAWHKTGSEESTMMSYFSKYQIQEHQPKVALSTLRDLQCPVLQSSELEGTPEVSCRALEL FDWLGAVFSNVDLNNEPNNFISTYCCPEPSTVVAKAYLCTITGFILPEKICLLLEHLCHYFDEPKLAPWVTLSVQGFADS PVSWEKNEHGFRKGGEHLYNFVIFNNQDYWLQMAVGANDHCPP*

Gene Symbol:	RPP40
Accession:	NM_001286132
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	106

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATLRRLREAPRHLLVCEKSNFGNHKSRHRHLVQTHYYNYRVSFLIPECGILSEELKNLVMNTGPYYFVKNLPLHELITP EFISTFIKKGKLILSLDKDTYEETGFQGHPSQFSGRKIMKFIVSIDLMELSLNLDSKKYERISWSFKEKKPLKFDFLLAW HKTGSEESTMMSYFSKYQIQEHQPKVALSTLRDLQCPVLQSSELEGTPEVSCRALELFDWLGAVFSNVDLNNEPNNFIST YCCPEPSTVVAKAYLCTITGFILPEKICLLLEHLCHYFDEPKLAPWVTLSVQGFADSPVSWEKNEHGFRKGGEHLYNFVI FNNQDYWLQMAVGANDHCPP*

Gene Symbol:	RPP40
Accession:	NM_001286133
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	129

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATLRRLREAPRHLLVCEKSNFGNHKSRHRHLVQTHYYNYRVSFLIPECGILSEELKNLVMNTGPYYFVKNLPLHELITP EFISTFIKKGSCYALTYNTHIDEDNTVALLPNGKLILSLDKDTYEETGFQGHPSQFSGRKIMKFSSEESTMMSYFSKYQI QEHQPKVALSTLRDLQCPVLQSSELEGTPEVSCRALELFDWLGAVFSNVDLNNEPNNFISTYCCPEPSTVVAKAYLCTIT GFILPEKICLLLEHLCHYFDEPKLAPWVTLSVQGFADSPVSWEKNEHGFRKGGEHLYNFVIFNNQDYWLQMAVGANDHCP P*

Gene Symbol:	RPP40
Accession:	XM_011514253
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	129

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATLRRLREAPRHLLVCEKSNFGNHKSRHRHLVQTHYYNYRVSFLIPECGILSEELKNLVMNTGPYYFVKNLPLHELITP EFISTFIKKGSCYALTYNTHIDEDNTVALLPNGKLILSLDKDTYEETGFQGHPSQFSGRKIMKFIVSIDLMELSLNLDSK KYERISWSFKEKKPLKFDFLLAWHKTGSEESTMMSYFSKYQIQEHQPKVALSTLRDLQCPVLQSSELEGTPEVSCRALEL FDWLGAVFSNVDLNNEPNNFISTYCCPEPSTVVAKAYLCTITGFILPEKICLLLEHLW*

Gene Symbol:	RPP40
Accession:	XM_024446309
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	129

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATLRRLREAPRHLLVCEKSNFGNHKSRHRHLVQTHYYNYRVSFLIPECGILSEELKNLVMNTGPYYFVKNLPLHELITP EFISTFIKKGSCYALTYNTHIDEDNTVALLPNGKLILSLDKDTYEETGFQGHPSQFSGRKIMKFSSEESTMMSYFSKYQI QEHQPKVALSTLRDLQCPVLQSSELEGTPEVSCRALELFDWLGAVFSNVDLNNEPNNFISTYCCPEPSTVVAKAYLCTIT GFILPEKICLLLEHLW*

Gene Symbol:	RPP40
Accession:	XM_047418096
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	106

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATLRRLREAPRHLLVCEKSNFGNHKSRHRHLVQTHYYNYRVSFLIPECGILSEELKNLVMNTGPYYFVKNLPLHELITP EFISTFIKKGKLILSLDKDTYEETGFQGHPSQFSGRKIMKFIVSIDLMELSLNLDSKKYERISWSFKEKKPLKFDFLLAW HKTGSEESTMMSYFSKYQIQEHQPKVALSTLRDLQCPVLQSSELEGTPEVSCRALELFDWLGAVFSNVDLNNEPNNFIST YCCPEPSTVVAKAYLCTITGFILPEKICLLLEHLW*

Gene Symbol:	RPP40
Accession:	XM_047418095
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	106

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATLRRLREAPRHLLVCEKSNFGNHKSRHRHLVQTHYYNYRVSFLIPECGILSEELKNLVMNTGPYYFVKNLPLHELITP EFISTFIKKGKLILSLDKDTYEETGFQGHPSQFSGRKIMKFSSEESTMMSYFSKYQIQEHQPKVALSTLRDLQCPVLQSS ELEGTPEVSCRALELFDWLGAVFSNVDLNNEPNNFISTYCCPEPSTVVAKAYLCTITGFILPEKICLLLEHLCHYFDEPK 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	RCV004860869	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	RPP40	CLINVAR
OMIM	606117	CLINVAR