RGD:155735192 Rat Genome Database

RGD:155735192 Rat Genome Database

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Variant: RGD:155735192 - Homo sapiens

RGD ID:

155735192

ClinVar ID:

CV1774452

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

RHOH

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	4	40,245,316
GRCh38	4	40,243,696

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_736t1:c.310A>G NM_001278359.2:c.310A>G NM_001278360.2:c.310A>G NM_001278361.2:c.310A>G More...	07/19/2022	missense variant	uncertain significance	AllHighlyPenetrant

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1774452	Human	coronin-1A deficiency		IAGP		8554872	ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis	ClinVar	PMID:28492532

Gene Symbol:	RHOH
Accession:	XM_011513692
Location:	EXON
Amino Acid Prediction:	S to G (nonsynonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL MCYSVANHNSFLNLKNKWIGEIRGNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:	RHOH
Accession:	XM_047415675
Location:	EXON
Amino Acid Prediction:	S to G (nonsynonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL MCYSVANHNSFLNLKNKWIGEIRGNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:	RHOH
Accession:	NM_001278360
Location:	EXON
Amino Acid Prediction:	S to G (nonsynonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL MCYSVANHNSFLNLKNKWIGEIRGNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:	RHOH
Accession:	XM_017008189
Location:	EXON
Amino Acid Prediction:	S to G (nonsynonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL MCYSVANHNSFLNLKNKWIGEIRGNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:	RHOH
Accession:	NM_001278368
Location:	EXON
Amino Acid Prediction:	S to G (nonsynonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL MCYSVANHNSFLNLKNKWIGEIRGNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:	RHOH
Accession:	NM_001278365
Location:	EXON
Amino Acid Prediction:	S to G (nonsynonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL MCYSVANHNSFLNLKNKWIGEIRGNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:	RHOH
Accession:	NM_001278364
Location:	EXON
Amino Acid Prediction:	S to G (nonsynonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL MCYSVANHNSFLNLKNKWIGEIRGNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:	RHOH
Accession:	NM_001278367
Location:	EXON
Amino Acid Prediction:	S to G (nonsynonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL MCYSVANHNSFLNLKNKWIGEIRGNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:	RHOH
Accession:	NM_001278362
Location:	EXON
Amino Acid Prediction:	S to G (nonsynonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL MCYSVANHNSFLNLKNKWIGEIRGNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:	RHOH
Accession:	NM_001278359
Location:	EXON
Amino Acid Prediction:	S to G (nonsynonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL MCYSVANHNSFLNLKNKWIGEIRGNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:	RHOH
Accession:	NM_004310
Location:	EXON
Amino Acid Prediction:	S to G (nonsynonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL MCYSVANHNSFLNLKNKWIGEIRGNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:	RHOH
Accession:	NM_001278363
Location:	EXON
Amino Acid Prediction:	S to G (nonsynonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL MCYSVANHNSFLNLKNKWIGEIRGNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:	RHOH
Accession:	XM_047415674
Location:	EXON
Amino Acid Prediction:	S to G (nonsynonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL MCYSVANHNSFLNLKNKWIGEIRGNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:	RHOH
Accession:	NM_001278366
Location:	EXON
Amino Acid Prediction:	S to G (nonsynonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL MCYSVANHNSFLNLKNKWIGEIRGNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:	RHOH
Accession:	NM_001278369
Location:	EXON
Amino Acid Prediction:	S to G (nonsynonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL MCYSVANHNSFLNLKNKWIGEIRGNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:	RHOH
Accession:	NM_001278361
Location:	EXON
Amino Acid Prediction:	S to G (nonsynonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL MCYSVANHNSFLNLKNKWIGEIRGNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ QVFECAVRTAVNQARRRNRRRLFSINECKIF*

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002301908	CLINVAR
	RCV004047681	CLINVAR
MedGen	C4749500	CLINVAR
	CN169374	CLINVAR
NCBI Gene	RHOH	CLINVAR
OMIM	602037	CLINVAR