RGD:156312377 Rat Genome Database

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Variant: RGD:156312377 -  Homo sapiens

RGD ID: 156312377
ClinVar ID: CV2256860
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZSWIM7  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 15,890,626
GRCh38 17 15,987,312
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001042697.2:c.155A>G
NM_001042698.2:c.155A>G
NC_000017.11:g.15987312T>C
NC_000017.10:g.15890626T>C
More... 		12/17/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ZSWIM7
Accession:XM_047435365
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVVLPAVVEELLSEMAAAVQESARSTGPRLKFLFGSSATQALDLVDRRSITLISSPSGRRVYQVLGSSSKTYTCLASCH
YCSCPAFAFSVLRKSDSILCKHLLAVYLSQVMRTCQQLSVSDKQLTDILLMEKKQEA*

Gene Symbol:ZSWIM7
Accession:XM_047435366
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVVLPAVVEELLSEMAAAVQESARSTGPRLKFLFGSSATQALDLVDRRSITLISSPSGRRVYQVLGSSSKTYTCLASCH
YCSCPAFAFSVLRKSDSILCKHLLAVYLSQVMRTCQQLSVSDKQLTDILLMEKKQEA*

Gene Symbol:ZSWIM7
Accession:XM_047435364
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVVLPAVVEELLSEMAAAVQESARIPDEYLLSLKFLFGSSATQALDLVDRRSITLISSPSGRRVYQVLGSSSKTYTCLA
SCHYCSCPAFAFSVLRKSDSILCKHLLAVYLSQVMRTCQQLSVSDKQLTDILLMEKKQEA*

Gene Symbol:ZSWIM7
Accession:NM_001042698
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVVLPAVVEELLSEMAAAVQESARIPDEYLLSLKFLFGSSATQALDLVDRRSITLISSPSGRRVYQVLGSSSKTYTCLA
SCHYCSCPAFAFSVLRKSDSILCKHLLAVYLSQVMRTCQQLSVSDKQLTDILLMEKKQEA*

Gene Symbol:ZSWIM7
Accession:NM_001042697
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVVLPAVVEELLSEMAAAVQESARIPDEYLLSLKFLFGSSATQALDLVDRRSITLISSPSGRRVYQVLGSSSKTYTCLA
SCHYCSCPAFAFSVLRKSDSILCKHLLAVYLSQVMRTCQQLSVSDKQLTDILLMEKKQEA*

Gene Symbol:ZSWIM7
Accession:XR_007065263
Location:EXON;NON-CODING

Gene Symbol:ZSWIM7
Accession:XR_007065264
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004121071 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ZSWIM7 CLINVAR
OMIM 614535 CLINVAR