RGD:401740815 Rat Genome Database

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RGD ID:

401740815

ClinVar ID:

CV2679810

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	1	28,863,367
GRCh38	1	28,536,855

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001048194.4:c.1139C>T NC_000001.11:g.28536855C>T NC_000001.10:g.28863367C>T NP_001368794.1:p.Ser349Leu More...	05/24/2023	missense variant	uncertain significance	AllHighlyPenetrant

Variant Details

Variant Transcripts

Gene Symbol:	RCC1
Accession:	NM_001048194
Location:	EXON
Amino Acid Prediction:	S to L (nonsynonymous)
Amino Acid Position:	380

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSPKRIAKRRSPPADAIPKSKKVKDTRAAASRRVPGARSCQGACGPSPPDQKTRPVSHRSHSTEPGLVLTLGQGDVGQLG LGENVMERKKPALVSIPEDVVQAEAGGMHTVCLSKSGQVYSFGCNDEGALGRDTSVEGSEMVPGKVELQEKVVQVSAGDS HTAALTDDGRVFLWGSFRDNNGVIGLLEPMKKSMVPVQVQLDVPVVKVASGNDHLVMLTADGDLYTLGCGEQGQLGRVPE LFANRGGRQGLERLLVPKCVMLKSRGSRGHVRFQDAFCGAYFTFAISHEGHVYGFGLSNYHQLGTPGTESCFIPQNLTSF KNSTKSWVGFSGGQHHTVCMDSEGKAYSLGRAEYGRLGLGEGAEEKSIPTLISRLPAVSLVACGASVGYAVTKDGRVFAW GMGTNYQLGTGQDEDAWSPVEMMGKQLENRVVLSVSSGGQHTVLLVKDKEQS*

Gene Symbol:	RCC1
Accession:	NM_001048195
Location:	EXON
Amino Acid Prediction:	S to L (nonsynonymous)
Amino Acid Position:	366

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSPKRIAKRRSPPADAIPKSKKVKDTRAAASRRVPGARSCQVSHRSHSTEPGLVLTLGQGDVGQLGLGENVMERKKPALV SIPEDVVQAEAGGMHTVCLSKSGQVYSFGCNDEGALGRDTSVEGSEMVPGKVELQEKVVQVSAGDSHTAALTDDGRVFLW GSFRDNNGVIGLLEPMKKSMVPVQVQLDVPVVKVASGNDHLVMLTADGDLYTLGCGEQGQLGRVPELFANRGGRQGLERL LVPKCVMLKSRGSRGHVRFQDAFCGAYFTFAISHEGHVYGFGLSNYHQLGTPGTESCFIPQNLTSFKNSTKSWVGFSGGQ HHTVCMDSEGKAYSLGRAEYGRLGLGEGAEEKSIPTLISRLPAVSLVACGASVGYAVTKDGRVFAWGMGTNYQLGTGQDE DAWSPVEMMGKQLENRVVLSVSSGGQHTVLLVKDKEQS*

Gene Symbol:	RCC1
Accession:	NM_001269
Location:	EXON
Amino Acid Prediction:	S to L (nonsynonymous)
Amino Acid Position:	349

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSPKRIAKRRSPPADAIPKSKKVKVSHRSHSTEPGLVLTLGQGDVGQLGLGENVMERKKPALVSIPEDVVQAEAGGMHTV CLSKSGQVYSFGCNDEGALGRDTSVEGSEMVPGKVELQEKVVQVSAGDSHTAALTDDGRVFLWGSFRDNNGVIGLLEPMK KSMVPVQVQLDVPVVKVASGNDHLVMLTADGDLYTLGCGEQGQLGRVPELFANRGGRQGLERLLVPKCVMLKSRGSRGHV RFQDAFCGAYFTFAISHEGHVYGFGLSNYHQLGTPGTESCFIPQNLTSFKNSTKSWVGFSGGQHHTVCMDSEGKAYSLGR AEYGRLGLGEGAEEKSIPTLISRLPAVSLVACGASVGYAVTKDGRVFAWGMGTNYQLGTGQDEDAWSPVEMMGKQLENRV VLSVSSGGQHTVLLVKDKEQS*

Gene Symbol:	SNHG3-RCC1
Accession:	NM_001048199
Location:	EXON
Amino Acid Prediction:	S to L (nonsynonymous)
Amino Acid Position:	349

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSPKRIAKRRSPPADAIPKSKKVKVSHRSHSTEPGLVLTLGQGDVGQLGLGENVMERKKPALVSIPEDVVQAEAGGMHTV CLSKSGQVYSFGCNDEGALGRDTSVEGSEMVPGKVELQEKVVQVSAGDSHTAALTDDGRVFLWGSFRDNNGVIGLLEPMK KSMVPVQVQLDVPVVKVASGNDHLVMLTADGDLYTLGCGEQGQLGRVPELFANRGGRQGLERLLVPKCVMLKSRGSRGHV RFQDAFCGAYFTFAISHEGHVYGFGLSNYHQLGTPGTESCFIPQNLTSFKNSTKSWVGFSGGQHHTVCMDSEGKAYSLGR AEYGRLGLGEGAEEKSIPTLISRLPAVSLVACGASVGYAVTKDGRVFAWGMGTNYQLGTGQDEDAWSPVEMMGKQLENRV VLSVSSGGQHTVLLVKDKEQS*

Gene Symbol:	RCC1
Accession:	NM_001381865
Location:	EXON
Amino Acid Prediction:	S to L (nonsynonymous)
Amino Acid Position:	349

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSPKRIAKRRSPPADAIPKSKKVKVSHRSHSTEPGLVLTLGQGDVGQLGLGENVMERKKPALVSIPEDVVQAEAGGMHTV CLSKSGQVYSFGCNDEGALGRDTSVEGSEMVPGKVELQEKVVQVSAGDSHTAALTDDGRVFLWGSFRDNNGVIGLLEPMK KSMVPVQVQLDVPVVKVASGNDHLVMLTADGDLYTLGCGEQGQLGRVPELFANRGGRQGLERLLVPKCVMLKSRGSRGHV RFQDAFCGAYFTFAISHEGHVYGFGLSNYHQLGTPGTESCFIPQNLTSFKNSTKSWVGFSGGQHHTVCMDSEGKAYSLGR AEYGRLGLGEGAEEKSIPTLISRLPAVSLVACGASVGYAVTKDGRVFAWGMGTNYQLGTGQDEDAWSPVEMMGKQLENRV VLSVSSGGQHTVLLVKDKEQS*

Gene Symbol:	RCC1
Accession:	NM_001381866
Location:	EXON
Amino Acid Prediction:	S to L (nonsynonymous)
Amino Acid Position:	349

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSPKRIAKRRSPPADAIPKSKKVKVSHRSHSTEPGLVLTLGQGDVGQLGLGENVMERKKPALVSIPEDVVQAEAGGMHTV CLSKSGQVYSFGCNDEGALGRDTSVEGSEMVPGKVELQEKVVQVSAGDSHTAALTDDGRVFLWGSFRDNNGVIGLLEPMK KSMVPVQVQLDVPVVKVASGNDHLVMLTADGDLYTLGCGEQGQLGRVPELFANRGGRQGLERLLVPKCVMLKSRGSRGHV RFQDAFCGAYFTFAISHEGHVYGFGLSNYHQLGTPGTESCFIPQNLTSFKNSTKSWVGFSGGQHHTVCMDSEGKAYSLGR AEYGRLGLGEGAEEKSIPTLISRLPAVSLVACGASVGYAVTKDGRVFAWGMGTNYQLGTGQDEDAWSPVEMMGKQLENRV VLSVSSGGQHTVLLVKDKEQS*

Variant Samples

Additional Information

External Database Links

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

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