RGD:156308388 Rat Genome Database

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Variant: RGD:156308388 -  Homo sapiens

RGD ID: 156308388
ClinVar ID: CV2332321
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC25A53  ZCCHC18  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 103,359,368
GRCh38 X 104,114,677
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001012755.5:c.-31-9389C>T
NM_001143978.3:c.566G>A
NC_000023.11:g.104114677G>A
NC_000023.10:g.103359368G>A
More... 		07/09/2021 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SLC25A53
Accession:NM_001012755
Location:5UTRS;INTRON

Gene Symbol:ZCCHC18
Accession:NM_001143978
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 189
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASITACVGNSRQQNAPLPPWAHSMLRSLGRSLCPLVVKMAERNMKLFSGRVVPAQGKETFENWLIQVNEVLPDWSMSEE
EKLKRLMKTLRGPAREVMRLLQAANPNLSVADFLRAMKLVFGESESSVTAHGKFFNTLQAQGEKASLYVIRLEVQLQNAI
QAGILAEKDANQTRLQQLLLGAELNRDLHFRLKHLLRMYANKQERLPNFLELIKMIREEEDWDDAFIKRKRPKRSEPIME
RAASPVAFQGAQPIAISSADCNCNVIEIDDTLDDSDEDVILVVSLYPSLTPTGAPPFRGRARPLDQVLVIDSPNNSGAQS
LSTSGGSGYKNDGPGNIRRARKRKYTTRCSYCGEEGHSKETCDNESNKAQVFENLIITLQELTHTEERSKEVPGEHSDAS
EPQ*

Gene Symbol:ZCCHC18
Accession:XM_011531012
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 189
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASITACVGNSRQQNAPLPPWAHSMLRSLGRSLCPLVVKMAERNMKLFSGRVVPAQGKETFENWLIQVNEVLPDWSMSEE
EKLKRLMKTLRGPAREVMRLLQAANPNLSVADFLRAMKLVFGESESSVTAHGKFFNTLQAQGEKASLYVIRLEVQLQNAI
QAGILAEKDANQTRLQQLLLGAELNRDLHFRLKHLLRMYANKQERLPNFLELIKMIREEEDWDDAFIKRKRPKRSEPIME
RAASPVAFQGAQPIAISSADCNCNVIEIDDTLDDSDEDVILVVSLYPSLTPTGAPPFRGRARPLDQVLVIDSPNNSGAQS
LSTSGGSGYKNDGPGNIRRARKRKYTTRCSYCGEEGHSKETCDNESNKAQVFENLIITLQELTHTEERSKEVPGEHSDAS
EPQ*

Gene Symbol:SLC25A53
Accession:XM_011530952
Location:INTRON

Gene Symbol:SLC25A53
Accession:XM_005262129
Location:INTRON

Gene Symbol:SLC25A53
Accession:XM_011530953
Location:INTRON

Gene Symbol:ZCCHC18
Accession:NR_026694
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004182490 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SLC25A53 CLINVAR
  ZCCHC18 CLINVAR
OMIM 300941 CLINVAR
  301122 CLINVAR