RGD:401931002 Rat Genome Database

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Variant: RGD:401931002 -  Homo sapiens

RGD ID: 401931002
ClinVar ID: CV2823856
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARHGAP6  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 11,162,005
GRCh38 X 11,143,885
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_013423.3:c.1567+95G>A
NM_001287242.2:c.1636+95G>A
NM_013427.3:c.2176+95G>A
NM_006125.3:c.2271G>A
More... 		11/01/2022 intron variant likely benign none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:ARHGAP6
Accession:NM_006125
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 757
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAQSLLHSVFSCSSPASSSAASAKGFSKRKLRQTRSLDPALIGGCGSDEAGAEGSARGATAGRLYSPSLPAESLGPRLA
SSSRGPPPRATRLPPPGPLCSSFSTPSTPQEKSPSGSFHFDYEVPLGRGGLKKSMAWDLPSVLAGPASSRSASSILCSSG
GGPNGIFASPRRWLQQRKFQSPPDSRGHPYVVWKSEGDFTWNSMSGRSVRLRSVPIQSLSELERARLQEVAFYQLQQDCD
LSCQITIPKDGQKRKKSLRKKLDSLGKEKNKDKEFIPQAFGMPLSQVIANDRAYKLKQDLQRDEQKDASDFVASLLPFGN
KRQNKELSSSNSSLSSTSETPNESTSPNTPEPAPRARRRGAMSVDSITDLDDNQSRLLEALQLSLPAEAQSKKEKARDKK
LSLNPIYRQVPRLVDSCCQHLEKHGLQTVGIFRVGSSKKRVRQLREEFDRGIDVSLEEEHSVHDVAALLKEFLRDMPDPL
LTRELYTAFINTLLLEPEEQLGTLQLLIYLLPPCNCDTLHRLLQFLSIVARHADDNISKDGQEVTGNKMTSLNLATIFGP
NLLHKQKSSDKEFSVQSSARAEESTAIIAVVQKMIENYEALFMVPPDLQNEVLISLLETDPDVVDYLLRRKASQSSSPDM
LQSEVSFSVGGRHSSTDSNKASSGDISPYDNNSPVLSERSLLAMQEDAAPGGSEKLYRVPGQFMLVGHLSSSKSRESSPG
PRLGKGNWSLASRRWPKQATLLLLHVAWCGALRTFSSSLPYLMFL*

Gene Symbol:ARHGAP6
Accession:NM_013423
Location:INTRON

Gene Symbol:ARHGAP6
Accession:NM_001287242
Location:INTRON

Gene Symbol:ARHGAP6
Accession:NM_013427
Location:INTRON

Gene Symbol:ARHGAP6
Accession:NR_109776
Location:INTRON;NON-CODING

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Database
Acc Id
Source(s)
ClinVar RCV003440974 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ARHGAP6 CLINVAR
OMIM 300118 CLINVAR