RGD:156028121 Rat Genome Database

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Variant: RGD:156028121 -  Homo sapiens

RGD ID: 156028121
ClinVar ID: CV2195698
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHURC1-FNTB  RAB15  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 65,417,130
GRCh38 14 64,950,412
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001330182.2:c.189C>T
NM_001202559.1:c.327+24332G>A
NM_001308154.2:c.327C>T
NM_198686.3:c.458C>T
More... 		09/16/2021 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:RAB15
Accession:XM_024449577
Location:EXON
Amino Acid Prediction: T to K (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTIEVDGIKVRIQIWDTAGQERYQTITKQYYRRAQGIFLVYDISSERSYQHIMKWVSDVDEVGDATSLPGCGEGASPGK
ARRGPDGKANASRKLCLPQPWMKTSGKHQKASRRSLLGIRLMRSRNGRWEESKGSSWRRSMAWTSMKQVPAPTSTLKSHS
RV*

Gene Symbol:RAB15
Accession:NM_198686
Location:EXON
Amino Acid Prediction: T to K (nonsynonymous)
Amino Acid Position: 153
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKQYDVLFRLLLIGDSGVGKTCLLCRFTDNEFHSSHISTIGVDFKMKTIEVDGIKVRIQIWDTAGQERYQTITKQYYRR
AQGIFLVYDISSERSYQHIMKWVSDVDEVGDATSLPGCGEGASPGKARRGPDGKANASRKLCLPQPWMKTSGKHQKASRR
SLLGIRLMRSRNGRWEESKGSSWRRSMAWTSMKQVPAPTSTLKSHSRV*

Gene Symbol:RAB15
Accession:NM_001330182
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTIEVDGIKVRIQIWDTAGQERYQTITKQYYRRAQGIFLVYDISSERSYQHIMKWVSDVDE*APEGVQKILIGNKADEE
QKRQVGREQGQQLAKEYGMDFYETSACTNLNIKESFTRLTELVLQAHRKELEGLRMRASNELALAELEEEEGKPEGPANS
SKTCWC*

Gene Symbol:RAB15
Accession:NM_001308154
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKQYDVLFRLLLIGDSGVGKTCLLCRFTDNEFHSSHISTIGVDFKMKTIEVDGIKVRIQIWDTAGQERYQTITKQYYRR
AQGIFLVYDISSERSYQHIMKWVSDVDE*APEGVQKILIGNKADEEQKRQVGREQGQQLAKEYGMDFYETSACTNLNIKE
SFTRLTELVLQAHRKELEGLRMRASNELALAELEEEEGKPEGPANSSKTCWC*

Gene Symbol:CHURC1-FNTB
Accession:NM_001202558
Location:INTRON

Gene Symbol:CHURC1-FNTB
Accession:NM_001202559
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004076058 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CHURC1-FNTB CLINVAR
  RAB15 CLINVAR
OMIM 619547 CLINVAR