rs61731758 Rat Genome Database

rs61731758 Rat Genome Database

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Variant: rs61731758 - Homo sapiens

RGD ID:

13626693

RS ID:

rs61731758

ClinVar ID:

CV520189

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

RHOH

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	4	40,245,516
GRCh38	4	40,243,896

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_033255.2:g.57886C>T NC_000004.12:g.40243896C>T NC_000004.11:g.40245516C>T NP_004301.1:p.Ala170= More...	12/09/2023	synonymous variant	benign\|likely benign	RHOH-related condition

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV520189	Human	coronin-1A deficiency		IAGP		8554872	ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis	ClinVar	PMID:28492532
CV520189	Human	immunodeficiency 129		IAGP		8554872	ClinVar Annotator: match by term: RHOH-related condition	ClinVar	PMID:28492532

Gene Symbol:	RHOH
Accession:	NM_001278364
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	170

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

Gene Symbol:	RHOH
Accession:	XM_047415674
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	170

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

Gene Symbol:	RHOH
Accession:	NM_001278365
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	170

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

Gene Symbol:	RHOH
Accession:	XM_047415675
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	170

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

Gene Symbol:	RHOH
Accession:	NM_001278359
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	170

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

Gene Symbol:	RHOH
Accession:	XM_011513692
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	170

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

Gene Symbol:	RHOH
Accession:	NM_001278362
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	170

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

Gene Symbol:	RHOH
Accession:	XM_017008189
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	170

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

Gene Symbol:	RHOH
Accession:	NM_001278366
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	170

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

Gene Symbol:	RHOH
Accession:	NM_001278367
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	170

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

Gene Symbol:	RHOH
Accession:	NM_004310
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	170

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

Gene Symbol:	RHOH
Accession:	NM_001278361
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	170

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

Gene Symbol:	RHOH
Accession:	NM_001278368
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	170

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

Gene Symbol:	RHOH
Accession:	NM_001278360
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	170

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

Gene Symbol:	RHOH
Accession:	NM_001278363
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	170

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

Gene Symbol:	RHOH
Accession:	NM_001278369
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	170

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

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000655222	CLINVAR
	RCV003928146	CLINVAR
dbSNP (RS)	rs61731758	CLINVAR
MedGen	C4749500	CLINVAR
NCBI Gene	RHOH	CLINVAR
OMIM	602037	CLINVAR