RGD:405663652 Rat Genome Database

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Variant: RGD:405663652 -  Homo sapiens

RGD ID: 405663652
ClinVar ID: CV3290160
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARL6IP6  LOC127275030  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 153,575,143
GRCh38 2 152,718,629
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001371972.1:c.5C>T
NM_152522.7:c.5C>T
NG_053091.1:g.5937C>T
NG_096878.1:g.721C>T
More... 		03/04/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ARL6IP6
Accession:NM_152522
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFAESGWRSALRRRGPGTPGPVARPSYSSFTQGDSWGEGEVDEEEGCDQVARDLRAEFSAGAWSEPRKRSVLPPDGNGS
PVLPDKRNGIFPAAAGSRAQPRRWPVQVLSILCSLLFAILLAFLLAIAYLIVKELHAENLKNEDDVDTGLLGFWTLLIIS
LTAGFSCCSFSWTVTYFDSFEPGMFPPTPLSPARFKKLTGHSFHMGYSMAILNGIVAALTVAWCLM*

Gene Symbol:ARL6IP6
Accession:NM_001371972
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFAESGWRSALRRRGPGTPGPVARPSYSSFTQGDSWGEGEVDEEEGCDQVARDLRAEFSAGAWSEPRKRSVLPPDGNGS
PVLPDKRNGIFPAAAGSRAQPRRWPVQVLSILCSLLFAILLAFLLAIAYLIVKELHAENLKNEDDVDTGLLGMFPPTPLS
PARFKKLTGHSFHMGYSMAILNGIVAALTVAWCLM*

Gene Symbol:ARL6IP6
Accession:NR_146431
Location:EXON;NON-CODING

Gene Symbol:ARL6IP6
Accession:NR_146430
Location:EXON;NON-CODING

Gene Symbol:ARL6IP6
Accession:XR_007069661
Location:EXON;NON-CODING

Gene Symbol:ARL6IP6
Accession:NR_146429
Location:EXON;NON-CODING

Gene Symbol:ARL6IP6
Accession:NR_146428
Location:EXON;NON-CODING

Gene Symbol:ARL6IP6
Accession:NM_001350068
Location:INTRON

Gene Symbol:ARL6IP6
Accession:NR_146422
Location:INTRON;NON-CODING

Gene Symbol:ARL6IP6
Accession:NR_024526
Location:INTRON;NON-CODING

Gene Symbol:ARL6IP6
Accession:NR_146426
Location:INTRON;NON-CODING

Gene Symbol:ARL6IP6
Accession:NR_146427
Location:INTRON;NON-CODING

Gene Symbol:ARL6IP6
Accession:NR_146424
Location:INTRON;NON-CODING

Gene Symbol:ARL6IP6
Accession:NR_146423
Location:INTRON;NON-CODING

Gene Symbol:ARL6IP6
Accession:NR_146425
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004417933 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ARL6IP6 CLINVAR
OMIM 616495 CLINVAR