RGD:401725063 Rat Genome Database

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Variant: RGD:401725063 -  Homo sapiens

RGD ID: 401725063
ClinVar ID: CV2725689
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NOX1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 100,117,424
GRCh38 X 100,862,435
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_013955.3:c.628C>A
NG_012567.1:g.16911C>A
NC_000023.11:g.100862435G>T
NC_000023.10:g.100117424G>T
More...
06/07/2023 missense variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NOX1
Accession:NM_013955
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNWVVNHWFSVLFLVVWLGLNVFLFVDAFLKYEKADKYYYTRKILGSTLACARASALCLNFNSTLILLPVCRNLLSFLR
GTCSFCSRTLRKQLDHNLTFHKLVAYMICLHTAIHIIAHLFNFDCYSRSRQATDGSLASILSSLSHDEKKGGSWLNPIQS
RNTTVEYVTFTSIAGLTGVIMTIALILMVTSATEFIRRSYFEVFWYTHHIFIFYILGLGIHGIGGIVRGQTEESMNESHP
RKCAESFEMWDDRDSHCRRPKFEGHPPESWKWILAPVILYICERILRFYRSQQKVVITKVVMHPSKVLELQMNKRGFSME
VGQYIFVNCPSISLLEWHPFTLTSAPEEDFFSIHIRAAGDWTENLIRAFEQQYSPIPRIEVDGPFGTASEDVFQYEVAVL
VGAGIGVTPFASILKSIWYKFQCADHNLKTKKVGHAALNFDKATDIVTGLKQKTSFGRPMWDNEFSTIATSHPKSVVGVF
LCGPRTLAKSLRKCCHRYSSLDPRKVQFYFNKENF*

Gene Symbol:NOX1
Accession:NM_007052
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNWVVNHWFSVLFLVVWLGLNVFLFVDAFLKYEKADKYYYTRKILGSTLACARASALCLNFNSTLILLPVCRNLLSFLR
GTCSFCSRTLRKQLDHNLTFHKLVAYMICLHTAIHIIAHLFNFDCYSRSRQATDGSLASILSSLSHDEKKGGSWLNPIQS
RNTTVEYVTFTSIAGLTGVIMTIALILMVTSATEFIRRSYFEVFWYTHHIFIFYILGLGIHGIGGIVRGQTEESMNESHP
RKCAESFEMWDDRDSHCRRPKFEGHPPESWKWILAPVILYICERILRFYRSQQKVVITKVVMHPSKVLELQMNKRGFSME
VGQYIFVNCPSISLLEWHPFTLTSAPEEDFFSIHIRAAGDWTENLIRAFEQQYSPIPRIEVDGPFGTASEDVFQYEVAVL
VGAGIGVTPFASILKSIWYKFQCADHNLKTKKIYFYWICRETGAFSWFNNLLTSLEQEMEELGKVGFLNYRLFLTGWDSN
IVGHAALNFDKATDIVTGLKQKTSFGRPMWDNEFSTIATSHPKSVVGVFLCGPRTLAKSLRKCCHRYSSLDPRKVQFYFN
KENF*

Gene Symbol:NOX1
Accession:NM_001271815
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNWVVNHWFSVLFLVVWLGLNVFLFVDAFLKYEKADKYYYTRKILGFCSRTLRKQLDHNLTFHKLVAYMICLHTAIHII
AHLFNFDCYSRSRQATDGSLASILSSLSHDEKKGGSWLNPIQSRNTTVEYVTFTSIAGLTGVIMTIALILMVTSATEFIR
RSYFEVFWYTHHIFIFYILGLGIHGIGGIVRGQTEESMNESHPRKCAESFEMWDDRDSHCRRPKFEGHPPESWKWILAPV
ILYICERILRFYRSQQKVVITKVVMHPSKVLELQMNKRGFSMEVGQYIFVNCPSISLLEWHPFTLTSAPEEDFFSIHIRA
AGDWTENLIRAFEQQYSPIPRIEVDGPFGTASEDVFQYEVAVLVGAGIGVTPFASILKSIWYKFQCADHNLKTKKIYFYW
ICRETGAFSWFNNLLTSLEQEMEELGKVGFLNYRLFLTGWDSNIVGHAALNFDKATDIVTGLKQKTSFGRPMWDNEFSTI
ATSHPKSVVGVFLCGPRTLAKSLRKCCHRYSSLDPRKVQFYFNKENF*

Gene Symbol:NOX1
Accession:XM_017029407
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 104
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MICLHTAIHIIAHLFNFDCYSRSRQATDGSLASILSSLSHDEKKGGSWLNPIQSRNTTVEYVTFTSIAGLTGVIMTIALI
LMVTSATEFIRRSYFEVFWYTHHIFIFYILGLGIHGIGGIVRGQTEESMNESHPRKCAESFEMWDDRDSHCRRPKFEGHP
PESWKWILAPVILYICERILRFYRSQQKVVITKVVMHPSKVLELQMNKRGFSMEVGQYIFVNCPSISLLEWHPFTLTSAP
EEDFFSIHIRAAGDWTENLIRAFEQQYSPIPRIEVDGPFGTASEDVFQYEVAVLVGAGIGVTPFASILKSIWYKFQCADH
NLKTKKIYFYWICRETGAFSWFNNLLTSLEQEMEELGKVGFLNYRLFLTGWDSNIVGHAALNFDKATDIVTGLKQKTSFG
RPMWDNEFSTIATSHPKSVVGVFLCGPRTLAKSLRKCCHRYSSLDPRKVQFYFNKENF*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003268830 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene NOX1 CLINVAR
OMIM 300225 CLINVAR