RGD:407487941 Rat Genome Database

RGD:407487941 Rat Genome Database

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Variant: RGD:407487941 - Homo sapiens

RGD ID:

407487941

ClinVar ID:

CV3476172

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	6	5,000,105
GRCh38	6	4,999,871

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000006.11:g.5000105T>C NM_006638.2:c.371A>G NP_001273061.1:p.Tyr101Cys NP_001273062.1:p.Tyr124Cys More...	05/10/2024	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	RPP40
Accession:	NM_006638
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	124

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

Gene Symbol:	RPP40
Accession:	NM_001286132
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	101

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

Gene Symbol:	RPP40
Accession:	NM_001286133
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	124

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

Gene Symbol:	RPP40
Accession:	XM_011514253
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	124

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

Gene Symbol:	RPP40
Accession:	XM_024446309
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	124

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

Gene Symbol:	RPP40
Accession:	XM_047418096
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	101

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

Gene Symbol:	RPP40
Accession:	XM_047418095
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	101

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATLRRLREAPRHLLVCEKSNFGNHKSRHRHLVQTHYYNYRVSFLIPECGILSEELKNLVMNTGPYYFVKNLPLHELITP EFISTFIKKGKLILSLDKDTCEETGLQGHPSQFSGRKIMKFSSEESTMMSYFSKYQIQEHQPKVALSTLRDLQCPVLQSS 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	RCV004665771	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	RPP40	CLINVAR
OMIM	606117	CLINVAR