RGD:156334789 Rat Genome Database

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Variant: RGD:156334789 -  Homo sapiens

RGD ID: 156334789
ClinVar ID: CV2263445
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZFYVE19  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 41,102,892
GRCh38 15 40,810,694
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000015.10:g.40810694G>A
NM_001258421.2:c.238G>A
NM_032850.5:c.733G>A
NM_001077268.1:c.763G>A
More... 		03/29/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ZFYVE19
Accession:XM_017022684
Location:3UTRS;EXON

Gene Symbol:ZFYVE19
Accession:NM_001258421
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIAERLARLRQENKPKLVPSQAEIEARLAALKDERQGSIPSTQEMEARLAALQGRVLPSQTPQPAHHTPDTRTQAQQTQN
LLTQLAAEVAIDESWKGGGPAASLQNDLNQGGPGSTNSKRQANWSLEEEKSRLLAEAALELREENTRQERILALAKRLAM
LRGQDPERVTLQDYRLPDSDDDEDEETAIQRVLQQLTEEASLDEASGFNIPAEQASRPWTQPRGAEPEAQDVDPRPEAEE
EELPWCCICNEDATLRCAGCDGDLFCARCFREGHDAFELKEHQTSAYSPPRAGQEH*

Gene Symbol:ZFYVE19
Accession:NM_001077268
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 255
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNYDSQQPPLPPLPYAGCRRASGFPALGRGGTVPVGVWGGAGQGREGRSWGEGPRGPGLGRRDLSSADPAVLGATMESRC
YGCAVKFTLFKKEYGCKNCGRAFCSGCLSFSAAVPRTGNTQQKVCKQCHEVLTRGSSANASKWSPPQNYKKRVAALEAKQ
KPSTSQSQGLTRQDQMIAERLARLRQENKPKLVPSQAEIEARLAALKDERQGSIPSTQEMEARLAALQGRVLPSQTPQPA
HHTPDTRTQAQQTQNLLTQLAAEVAIDESWKGGGPAASLQNDLNQGGPGSTNSKRQANWSLEEEKSRLLAEAALELREEN
TRQERILALAKRLAMLRGQDPERVTLQDYRLPDSDDDEDEETAIQRVLQQLTEEASLDEASGFNIPAEQASRPWTQPRGA
EPEAQDVDPRPEAEEEELPWCCICNEDATLRCAGCDGDLFCARCFREGHDAFELKEHQTSAYSPPRAGQEH*

Gene Symbol:ZFYVE19
Accession:NM_001258420
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 255
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNYDSQQPPLPPLPYAGCRRASGFPALGRGGTVPVGVWGGAGQGREGRSWGEGPRGPGLGRRDLSSADPAVLGATMESRC
YGCAVKFTLFKKEYGCKNCGRAFCSGCLSFSAAVPRTGNTQQKVCKQCHEVLTRGSSANASKWSPPQNYKKRVAALEAKQ
KPSTSQSQGLTRQDQMIAERLARLRQENKPKLVPSQAEIEARLAALKDERQGSIPSTQEMEARLAALQGRVLPSQTPQPA
HHTPDTRTQAQQTQNLLTQLAAEVAIDESWKGGGPVTLQDYRLPDSDDDEDEETAIQRVLQQLTEEASLDEASGFNIPAE
QASRPWTQPRGAEPEAQDVDPRPEAEEEELPWCCICNEDATLRCAGCDGDLFCARCFREGHDAFELKEHQTSAYSPPRAG
QEH*

Gene Symbol:ZFYVE19
Accession:NM_032850
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAVAEALGQEGPPDLSRSAFLATVLTSLSAAFSSMPSSAYSLPFSRSLELDYHTSSCFRGTMVKADCPVPITDLPDSSG
KLQYGCKNCGRAFCSGCLSFSAAVPRTGNTQQKVCKQCHEVLTRGSSANASKWSPPQNYKKRVAALEAKQKPSTSQSQGL
TRQDQMIAERLARLRQENKPKLVPSQAEIEARLAALKDERQGSIPSTQEMEARLAALQGRVLPSQTPQPAHHTPDTRTQA
QQTQNLLTQLAAEVAIDESWKGGGPAASLQNDLNQGGPGSTNSKRQANWSLEEEKSRLLAEAALELREENTRQERILALA
KRLAMLRGQDPERVTLQDYRLPDSDDDEDEETAIQRVLQQLTEEASLDEASGFNIPAEQASRPWTQPRGAEPEAQDVDPR
PEAEEEELPWCCICNEDATLRCAGCDGDLFCARCFREGHDAFELKEHQTSAYSPPRAGQEH*

Gene Symbol:ZFYVE19
Accession:XM_024450092
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEARLAALQGRVLPSQTPQPAHHTPDTRTQAQQTQNLLTQLAAEVAIDESWKGGGPAASLQNDLNQGGPGSTNSKRQANW
SLEEEKSRLLAEAALELREENTRQERILALAKRLAMLRGQDPERVTLQDYRLPDSDDDEDEETAIQRVLQQLTEEASLDE
ASGFNIPAEQASRPWTQPRGAEPEAQDVDPRPEAEEEELPWCCICNEDATLRCAGCDGDLFCARCFREGHDAFELKEHQT
SAYSPPRAGQEH*

Gene Symbol:ZFYVE19
Accession:XR_931925
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002835618 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene ZFYVE19 CLINVAR
OMIM 619635 CLINVAR