RGD:405689094 Rat Genome Database

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Variant: RGD:405689094 -  Homo sapiens

RGD ID: 405689094
ClinVar ID: CV3351465
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZSWIM7  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 15,902,853
GRCh38 17 15,999,539
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001036162.1:p.Ala19Val
NM_017775.3:c.-310G>A
NM_001271420.1:c.-768G>A
NM_001042697.2:c.56C>T
More... 		01/16/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ZSWIM7
Accession:NM_001042698
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 19
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVVLPAVVEELLSEMAAVVQESARIPDEYLLSLKFLFGSSATQALDLVDRQSITLISSPSGRRVYQVLGSSSKTYTCLA
SCHYCSCPAFAFSVLRKSDSILCKHLLAVYLSQVMRTCQQLSVSDKQLTDILLMEKKQEA*

Gene Symbol:ZSWIM7
Accession:XM_047435364
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 19
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVVLPAVVEELLSEMAAVVQESARIPDEYLLSLKFLFGSSATQALDLVDRQSITLISSPSGRRVYQVLGSSSKTYTCLA
SCHYCSCPAFAFSVLRKSDSILCKHLLAVYLSQVMRTCQQLSVSDKQLTDILLMEKKQEA*

Gene Symbol:ZSWIM7
Accession:NM_001042697
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 19
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVVLPAVVEELLSEMAAVVQESARIPDEYLLSLKFLFGSSATQALDLVDRQSITLISSPSGRRVYQVLGSSSKTYTCLA
SCHYCSCPAFAFSVLRKSDSILCKHLLAVYLSQVMRTCQQLSVSDKQLTDILLMEKKQEA*

Gene Symbol:ZSWIM7
Accession:XM_047435365
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 19
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVVLPAVVEELLSEMAAVVQESARSTGPRLKFLFGSSATQALDLVDRQSITLISSPSGRRVYQVLGSSSKTYTCLASCH
YCSCPAFAFSVLRKSDSILCKHLLAVYLSQVMRTCQQLSVSDKQLTDILLMEKKQEA*

Gene Symbol:ZSWIM7
Accession:XM_047435366
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 19
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVVLPAVVEELLSEMAAVVQESARSTGPRLKFLFGSSATQALDLVDRQSITLISSPSGRRVYQVLGSSSKTYTCLASCH
YCSCPAFAFSVLRKSDSILCKHLLAVYLSQVMRTCQQLSVSDKQLTDILLMEKKQEA*

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004490415 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ZSWIM7 CLINVAR
OMIM 614535 CLINVAR