RGD:407530671 Rat Genome Database

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Variant: RGD:407530671 -  Homo sapiens

RGD ID: 407530671
ClinVar ID: CV3463516
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APH1B  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 63,594,558
GRCh38 15 63,302,359
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001145646.2:c.370G>C
NM_031301.4:c.493G>C
NC_000015.10:g.63302359G>C
NC_000015.9:g.63594558G>C
More... 		03/25/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:APH1B
Accession:NM_031301
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 165
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTAAVFFGCAFIAFGPALALYVFTIATEPLRIIFLIAGAFFWLVSLLISSLVWFMARVIIDNKDGPTQKYLLIFGAFVSV
YIQEMFRFAYYKLLKKASEGLKSINPGETAPSMRLLAYVSGLGFGIMSGVFSFVNTLSDSLGPGTVGIHGDSPQFFLYSA
FMTLLIILLHVFWGIVFFDGCEKKKWGILLIVLLTHLLVSAQTFISSYYGINLASAFIILVLMGTWAFLAAGGSCRSLKL
CLLCQDKNFLLYNQRSR*

Gene Symbol:APH1B
Accession:NM_001145646
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTAAVFFGCAFIAFGPALALYVFTIATEPLRIIFLIAGAFFWLVSLLISSLVWFMARVIIDNKDGPTQKYLLIFGAFVSV
YIQEMFRFAYYKLLKKASEGLKSINPGETAPSMRLLAYAFMTLLIILLHVFWGIVFFDGCEKKKWGILLIVLLTHLLVSA
QTFISSYYGINLASAFIILVLMGTWAFLAAGGSCRSLKLCLLCQDKNFLLYNQRSR*

Gene Symbol:APH1B
Accession:XM_011522105
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 165
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTAAVFFGCAFIAFGPALALYVFTIATEPLRIIFLIAGAFFWLVSLLISSLVWFMARVIIDNKDGPTQKYLLIFGAFVSV
YIQEMFRFAYYKLLKKASEGLKSINPGETAPSMRLLAYVSGLGFGIMSGVFSFVNTLSDSLGPGTVGIHGDSPQFFLYSA
FMTLLIILLHVFWGIVFFDGCEKKKWGILLIVLLTHLLVSAQVSLENCSFSVTAAWKSCVFQTRHHDWTLFLALV*

Gene Symbol:APH1B
Accession:XM_024450085
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 111
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARVIIDNKDGPTQKYLLIFGAFVSVYIQEMFRFAYYKLLKKASEGLKSINPGETAPSMRLLAYVSGLGFGIMSGVFSFV
NTLSDSLGPGTVGIHGDSPQFFLYSAFMTLLIILLHVFWGIVFFDGCEKKKWGILLIVLLTHLLVSAQTFISSYYGINLA
SAFIILVLMGTWAFLAAGGSCRSLKLCLLCQDKNFLLYNQRSR*

Gene Symbol:APH1B
Accession:XR_007064490
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004657181 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene APH1B CLINVAR
OMIM 607630 CLINVAR