RGD:156008237 Rat Genome Database

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Variant: RGD:156008237 -  Homo sapiens

RGD ID: 156008237
ClinVar ID: CV2288534
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OFD1  TRAPPC2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 13,734,787
GRCh38 X 13,716,668
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001011658.4:c.104G>A
NM_014563.6:c.104G>A
NM_001128835.3:c.206G>A
NG_011555.1:g.22956G>A
More... 		07/08/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TRAPPC2
Accession:XM_011545566
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGSFYFVIVGHHDNPVFEMEFLPAGKAESKDDHLHLNQFIAHAALDLVDENMWLSNNMYLKTVDKFNEWFVSAFVTAGH
MRFIMLHDIRQEDGIKNFFTDVYDLYIKFSMNPFYEPNSPIRSSAFDRKVQFLGKKHLLS*

Gene Symbol:TRAPPC2
Accession:XM_047442351
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGSFYFVIVGHHDNPVFEMEFLPAGKAESKDDHLHLNQFIAHAALDLVDENMWLSNNMYLKTVDKFNEWFVSAFVTAGH
MRFIMLHDIRQEDGIKNFFTDVYDLYIKFSMNPFYEPNSPIRSSAFDRKVQFLGKKHLLS*

Gene Symbol:TRAPPC2
Accession:XM_047442352
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGSFYFVIVGHHDNPVFEMEFLPAGKAESKDDHLHLNQFIAHAALDLVDENMWLSNNMYLKTVDKFNEWFVSAFVTAGH
MRFIMLHDIRQEDGIKNFFTDVYDLYIKFSMNPFYEPNSPIRSSAFDRKVQFLGKKHLLS*

Gene Symbol:TRAPPC2
Accession:NM_001011658
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGSFYFVIVGHHDNPVFEMEFLPAGKAESKDDHLHLNQFIAHAALDLVDENMWLSNNMYLKTVDKFNEWFVSAFVTAGH
MRFIMLHDIRQEDGIKNFFTDVYDLYIKFSMNPFYEPNSPIRSSAFDRKVQFLGKKHLLS*

Gene Symbol:TRAPPC2
Accession:NM_014563
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGSFYFVIVGHHDNPVFEMEFLPAGKAESKDDHLHLNQFIAHAALDLVDENMWLSNNMYLKTVDKFNEWFVSAFVTAGH
MRFIMLHDIRQEDGIKNFFTDVYDLYIKFSMNPFYEPNSPIRSSAFDRKVQFLGKKHLLS*

Gene Symbol:TRAPPC2
Accession:NM_001128835
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSWKQDRSGLRSTELNVLEYQPLCAVRSHILKTMSGSFYFVIVGHHDNPVFEMEFLPAGKAESKDDHLHLNQFIAHAAL
DLVDENMWLSNNMYLKTVDKFNEWFVSAFVTAGHMRFIMLHDIRQEDGIKNFFTDVYDLYIKFSMNPFYEPNSPIRSSAF
DRKVQFLGKKHLLS*

Gene Symbol:OFD1
Accession:XM_047442588
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442594
Location:INTRON

Gene Symbol:OFD1
Accession:XM_011545598
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442589
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442597
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442592
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442586
Location:INTRON

Gene Symbol:OFD1
Accession:XM_017029911
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442585
Location:INTRON

Gene Symbol:OFD1
Accession:NM_003611
Location:INTRON

Gene Symbol:OFD1
Accession:NM_001330209
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442596
Location:INTRON

Gene Symbol:OFD1
Accession:NM_001330210
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442587
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442590
Location:INTRON

Gene Symbol:OFD1
Accession:XM_017029909
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442584
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442591
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442595
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442583
Location:INTRON

Gene Symbol:OFD1
Accession:XM_047442593
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002865960 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene OFD1 CLINVAR
  TRAPPC2 CLINVAR
OMIM 300170 CLINVAR
  300202 CLINVAR