RGD:156354815 Rat Genome Database

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Variant: RGD:156354815 -  Homo sapiens

RGD ID: 156354815
ClinVar ID: CV2324357
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZSCAN23  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 28,402,754
GRCh38 6 28,434,977
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001012455.2:c.658A>G
NC_000006.12:g.28434977T>C
NC_000006.11:g.28402754T>C
NM_001012455.1:c.658A>G
More... 		12/01/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ZSCAN23
Accession:NM_001012455
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 220
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAITLTLQTAEMQEGLLAVKVKEEEEEHSCGPESGLSRNNPHTREIFRRRFRQFCYQESPGPREALQRLQELCHQWLRPE
MHTKEQILELLVLEQFLTILPEELQAWVRQHRPVSGEEAVTVLEDLERELDDPGEQVLSHAHEQEEFVKEKATPGAAQES
SNDQFQTLEEQLGYNLREVCPVQEIDGKAGTWNVELAPKREISQEVKSLIQVLGKQNGNVTQIPEYGDTCDREGRLEKQR
VSSSVERPYICSECGKSFTQNSILIEHQRTHTGEKPYECDECGRAFSQRSGLFQHQRLHTGEKRYQCSVCGKAFSQNAGL
FHHLRIHTGEKPYQCNQCNKSFSRRSVLIKHQRIHTGERPYECEECGKNFIYHCNLIQHRKVHPVAESS*

Gene Symbol:ZSCAN23
Accession:XM_047418384
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 220
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAITLTLQTAEMQEGLLAVKVKEEEEEHSCGPESGLSRNNPHTREIFRRRFRQFCYQESPGPREALQRLQELCHQWLRPE
MHTKEQILELLVLEQFLTILPEELQAWVRQHRPVSGEEAVTVLEDLERELDDPGEQVLSHAHEQEEFVKEKATPGAAQES
SNDQFQTLEEQLGYNLREVCPVQEIDGKAGTWNVELAPKREISQEVKSLIQVLGKQNGNVTQIPEYGDTCDREGRLEKQR
VSSSVERPYICSECGKSFTQNSILIEHQRTHTGEKPYECDECGRAFSQRSGLFQHQRLHTGEKRYQCSVCGKAFSQNAGL
FHHLRIHTGEKPYQCNQCNKSFSRRSVLIKHQRIHTGERPYECEECGKNFIYHCNLIQHRKVHPVAESS*

Gene Symbol:ZSCAN23
Accession:XR_007059226
Location:EXON;NON-CODING

Gene Symbol:ZSCAN23
Accession:XR_007059223
Location:EXON;NON-CODING

Gene Symbol:ZSCAN23
Accession:XR_007059225
Location:EXON;NON-CODING

Gene Symbol:ZSCAN23
Accession:XR_007059224
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004178861 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ZSCAN23 CLINVAR