rs76788449 Rat Genome Database

rs76788449 Rat Genome Database

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Variant: rs76788449 - Homo sapiens

RGD ID:

13491004

RS ID:

rs76788449

ClinVar ID:

CV453161

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

RHOH

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	4	40,245,150
GRCh38	4	40,243,530

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NP_004301.1:p.Asp48= NG_033255.2:g.57520T>C NC_000004.12:g.40243530T>C NC_000004.11:g.40245150T>C More...	10/01/2022	synonymous variant	likely benign	none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV453161	Human	coronin-1A deficiency		IAGP		8554872	ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis	ClinVar	PMID:25741868\|PMID:28492532
CV453161	Human	immunodeficiency 129		IAGP		8554872	ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4	ClinVar	PMID:25741868\|PMID:28492532

Gene Symbol:	RHOH
Accession:	NM_004310
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	48

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

Gene Symbol:	RHOH
Accession:	NM_001278368
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	48

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

Gene Symbol:	RHOH
Accession:	NM_001278365
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	48

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

Gene Symbol:	RHOH
Accession:	NM_001278364
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	48

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

Gene Symbol:	RHOH
Accession:	NM_001278366
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	48

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

Gene Symbol:	RHOH
Accession:	NM_001278367
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	48

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

Gene Symbol:	RHOH
Accession:	NM_001278369
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	48

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

Gene Symbol:	RHOH
Accession:	NM_001278362
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	48

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

Gene Symbol:	RHOH
Accession:	NM_001278361
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	48

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

Gene Symbol:	RHOH
Accession:	NM_001278360
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	48

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

Gene Symbol:	RHOH
Accession:	NM_001278359
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	48

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

Gene Symbol:	RHOH
Accession:	NM_001278363
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	48

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

Gene Symbol:	RHOH
Accession:	XM_011513692
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	48

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

Gene Symbol:	RHOH
Accession:	XM_017008189
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	48

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

Gene Symbol:	RHOH
Accession:	XM_047415674
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	48

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

Gene Symbol:	RHOH
Accession:	XM_047415675
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	48

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

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000556395	CLINVAR
	RCV002497200	CLINVAR
	RCV003431124	CLINVAR
dbSNP (RS)	rs76788449	CLINVAR
MedGen	C3661900	CLINVAR
	C4749042	CLINVAR
	C4749500	CLINVAR
NCBI Gene	RHOH	CLINVAR
OMIM	602037	CLINVAR
	618307	CLINVAR