rs1729532222 Rat Genome Database

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Variant: rs1729532222 -  Homo sapiens

RGD ID: 26886135
RS ID: rs1729532222
ClinVar ID: CV829151
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RHOH  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 40,245,247
GRCh38 4 40,243,627
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NC_000004.12:g.40243627A>G
NM_001278364.2:c.241A>G
NM_001278367.2:c.241A>G
NC_000004.11:g.40245247A>G
More... 		03/26/2019 missense variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV829151Humancoronin-1A deficiency  IAGP 8554872ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformisClinVarPMID:28492532
Gene Symbol:RHOH
Accession:NM_004310
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL
VCYSVANHNSFLNLKNKWIGEIRSNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ
QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:RHOH
Accession:NM_001278368
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL
VCYSVANHNSFLNLKNKWIGEIRSNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ
QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:RHOH
Accession:NM_001278365
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL
VCYSVANHNSFLNLKNKWIGEIRSNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ
QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:RHOH
Accession:NM_001278364
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL
VCYSVANHNSFLNLKNKWIGEIRSNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ
QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:RHOH
Accession:NM_001278366
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL
VCYSVANHNSFLNLKNKWIGEIRSNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ
QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:RHOH
Accession:NM_001278367
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL
VCYSVANHNSFLNLKNKWIGEIRSNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ
QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:RHOH
Accession:NM_001278369
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL
VCYSVANHNSFLNLKNKWIGEIRSNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ
QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:RHOH
Accession:NM_001278362
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL
VCYSVANHNSFLNLKNKWIGEIRSNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ
QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:RHOH
Accession:NM_001278361
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL
VCYSVANHNSFLNLKNKWIGEIRSNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ
QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:RHOH
Accession:NM_001278360
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL
VCYSVANHNSFLNLKNKWIGEIRSNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ
QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:RHOH
Accession:NM_001278359
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL
VCYSVANHNSFLNLKNKWIGEIRSNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ
QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:RHOH
Accession:NM_001278363
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL
VCYSVANHNSFLNLKNKWIGEIRSNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ
QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:RHOH
Accession:XM_011513692
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL
VCYSVANHNSFLNLKNKWIGEIRSNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ
QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:RHOH
Accession:XM_017008189
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL
VCYSVANHNSFLNLKNKWIGEIRSNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ
QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:RHOH
Accession:XM_047415674
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL
VCYSVANHNSFLNLKNKWIGEIRSNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ
QVFECAVRTAVNQARRRNRRRLFSINECKIF*

Gene Symbol:RHOH
Accession:XM_047415675
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 81
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSSIKCVLVGDSAVGKTSLLVRFTSETFPEAYKPTVYENTGVDVFMDGIQISLGLWDTAGNDAFRSIRPLSYQQADVVL
VCYSVANHNSFLNLKNKWIGEIRSNLPCTPVLVVATQTDQREMGPHRASCVNAMEGKKLAQDVRAKGYLECSALSNRGVQ
QVFECAVRTAVNQARRRNRRRLFSINECKIF*
.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV001044000 CLINVAR
dbSNP (RS) rs1729532222 CLINVAR
MedGen C4749500 CLINVAR
NCBI Gene RHOH CLINVAR
OMIM 602037 CLINVAR