RGD:405721313 Rat Genome Database

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Variant: RGD:405721313 -  Homo sapiens

RGD ID: 405721313
ClinVar ID: CV3249046
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EPHX1  TMEM63A  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 226,032,305
GRCh38 1 225,844,604
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001378429.1:c.1099A>C
NM_001378430.1:c.1099A>C
NM_001378428.1:c.1120A>C
NM_000120.4:c.1147A>C
More... 		12/14/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:EPHX1
Accession:NM_001291163
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 383
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWLEILLTSVLGFAIYWFISRDKEETLPLEDGWWGPGTRSAAREDDSIRPFKVETSDEEIHDLHQRIDKFRFTPPLEDSC
FHYGFNSNYLKKVISYWRNEFDWKKQVEILNRYPHFKTKIEGLDIHFIHVKPPQLPAGHTPKPLLMVHGWPGSFYEFYKI
IPLLTDPKNHGLSDEHVFEVICPSIPGYGFSEASSKKGFNSVATARIFYKLMLRLGFQEFYIQGGDWGSLICTNMAQLVP
SHVKGLHLNMALVLSNFSTLTLLLGQRFGRFLGLTERDVELLYPVKEKVFYSLMRESGYMHIQCTKPDTVGSALNDSPVG
LAAYILEKFSTWTNTEFRYLEDGGLERKFSLDDLLTNVMLYWTTGTIISSQRFYKENLGQGWLTQKHERMKVYVPTGFSA
FPFELLHTPEKWVRFKYPKLISYSYMVRGGHFAAFEEPELLAQDIRKFLSVLERQ*

Gene Symbol:EPHX1
Accession:NM_001378427
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 383
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWLEILLTSVLGFAIYWFISRDKEETLPLEDGWWGPGTRSAAREDDSIRPFKVETSDEEIHDLHQRIDKFRFTPPLEDSC
FHYGFNSNYLKKVISYWRNEFDWKKQVEILNRYPHFKTKIEGLDIHFIHVKPPQLPAGHTPKPLLMVHGWPGSFYEFYKI
IPLLTDPKNHGLSDEHVFEVICPSIPGYGFSEASSKKGFNSVATARIFYKLMLRLGFQEFYIQGGDWGSLICTNMAQLVP
SHVKGLHLNMALVLSNFSTLTLLLGQRFGRFLGLTERDVELLYPVKEKVFYSLMRESGYMHIQCTKPDTVGSALNDSPVG
LAAYILEKFSTWTNTEFRYLEDGGLERKFSLDDLLTNVMLYWTTGTIISSQRFYKENLGQGWLTQKHERMKVYVPTGFSA
FPFELLHTPEKWVRFKYPKLISYSYMVRGGHFAAFEEPELLAQDIRKFLSVLERQ*

Gene Symbol:EPHX1
Accession:NM_001378426
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 383
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWLEILLTSVLGFAIYWFISRDKEETLPLEDGWWGPGTRSAAREDDSIRPFKVETSDEEIHDLHQRIDKFRFTPPLEDSC
FHYGFNSNYLKKVISYWRNEFDWKKQVEILNRYPHFKTKIEGLDIHFIHVKPPQLPAGHTPKPLLMVHGWPGSFYEFYKI
IPLLTDPKNHGLSDEHVFEVICPSIPGYGFSEASSKKGFNSVATARIFYKLMLRLGFQEFYIQGGDWGSLICTNMAQLVP
SHVKGLHLNMALVLSNFSTLTLLLGQRFGRFLGLTERDVELLYPVKEKVFYSLMRESGYMHIQCTKPDTVGSALNDSPVG
LAAYILEKFSTWTNTEFRYLEDGGLERKFSLDDLLTNVMLYWTTGTIISSQRFYKENLGQGWLTQKHERMKVYVPTGFSA
FPFELLHTPEKWVRFKYPKLISYSYMVRGGHFAAFEEPELLAQDIRKFLSVLERQ*

Gene Symbol:EPHX1
Accession:NM_001378429
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWLEILLTSVLGFAIYWFISRDKEETLPLEDGWWGPGTRSAAREDDSIRPFKVETSDEEIHDLHQRIDKFRFTPPLEDSC
FHYGFNSNYLKKVISYWRNEFDWKKQVEILNRYPHFKTKIEGLDIHFIHVKPPQLPAGHTPKPLLMVHGWPGSFYEFYKI
IPLLTDPKNHGLSDEHVFEVICPSIPGYGFSEASSKKGFNSVATARIFYKLMLRLGFQEFYIQGGDWGSLICTNMAQLVP
SHVKGLHLNMALVLSNFSTLTLLLGQRFGRFLGLTERDVELLYPVKEKVFYSLMRESGYMHIQCTKPDTVEKFSTWTNTE
FRYLEDGGLERKFSLDDLLTNVMLYWTTGTIISSQRFYKENLGQGWLTQKHERMKVYVPTGFSAFPFELLHTPEKWVRFK
YPKLISYSYMVRGGHFAAFEEPELLAQDIRKFLSVLERQ*

Gene Symbol:EPHX1
Accession:NM_001378432
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 194
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWLEILLTSVLGFAIYWFISRDKEETLPLEDGWWGPGTRSAAREDDSIRPFKVETSDEEIHDLHQRIDKFRFTPPLEDSC
FHYGFNSNYLKKVISYWRNEFDWKKQVEILNRYPHFKTKIEGSALNDSPVGLAAYILEKFSTWTNTEFRYLEDGGLERKF
SLDDLLTNVMLYWTTGTIISSQRFYKENLGQGWLTQKHERMKVYVPTGFSAFPFELLHTPEKWVRFKYPKLISYSYMVRG
GHFAAFEEPELLAQDIRKFLSVLERQ*

Gene Symbol:EPHX1
Accession:NM_001378430
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWLEILLTSVLGFAIYWFISRDKEETLPLEDGWWGPGTRSAAREDDSIRPFKVETSDEEIHDLHQRIDKFRFTPPLEDSC
FHYGFNSNYLKKVISYWRNEFDWKKQVEILNRYPHFKTKIEGLDIHFIHVKPPQLPAGHTPKPLLMVHGWPGSFYEFYKI
IPLLTDPKNHGLSDEHVFEVICPSIPGYGFSEASSKKGFNSVATARIFYKLMLRLGFQEFYIQGGDWGSLICTNMAQLVP
SHVKGLHLNMALVLSNFSTLTLLLGQRFGRFLGLTERDVELLYPVKEKVFYSLMRESGYMHIQCTKPDTVEKFSTWTNTE
FRYLEDGGLERKFSLDDLLTNVMLYWTTGTIISSQRFYKENLGQGWLTQKHERMKVYVPTGFSAFPFELLHTPEKWVRFK
YPKLISYSYMVRGGHFAAFEEPELLAQDIRKFLSVLERQ*

Gene Symbol:EPHX1
Accession:NM_000120
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 383
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWLEILLTSVLGFAIYWFISRDKEETLPLEDGWWGPGTRSAAREDDSIRPFKVETSDEEIHDLHQRIDKFRFTPPLEDSC
FHYGFNSNYLKKVISYWRNEFDWKKQVEILNRYPHFKTKIEGLDIHFIHVKPPQLPAGHTPKPLLMVHGWPGSFYEFYKI
IPLLTDPKNHGLSDEHVFEVICPSIPGYGFSEASSKKGFNSVATARIFYKLMLRLGFQEFYIQGGDWGSLICTNMAQLVP
SHVKGLHLNMALVLSNFSTLTLLLGQRFGRFLGLTERDVELLYPVKEKVFYSLMRESGYMHIQCTKPDTVGSALNDSPVG
LAAYILEKFSTWTNTEFRYLEDGGLERKFSLDDLLTNVMLYWTTGTIISSQRFYKENLGQGWLTQKHERMKVYVPTGFSA
FPFELLHTPEKWVRFKYPKLISYSYMVRGGHFAAFEEPELLAQDIRKFLSVLERQ*

Gene Symbol:EPHX1
Accession:NM_001136018
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 383
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWLEILLTSVLGFAIYWFISRDKEETLPLEDGWWGPGTRSAAREDDSIRPFKVETSDEEIHDLHQRIDKFRFTPPLEDSC
FHYGFNSNYLKKVISYWRNEFDWKKQVEILNRYPHFKTKIEGLDIHFIHVKPPQLPAGHTPKPLLMVHGWPGSFYEFYKI
IPLLTDPKNHGLSDEHVFEVICPSIPGYGFSEASSKKGFNSVATARIFYKLMLRLGFQEFYIQGGDWGSLICTNMAQLVP
SHVKGLHLNMALVLSNFSTLTLLLGQRFGRFLGLTERDVELLYPVKEKVFYSLMRESGYMHIQCTKPDTVGSALNDSPVG
LAAYILEKFSTWTNTEFRYLEDGGLERKFSLDDLLTNVMLYWTTGTIISSQRFYKENLGQGWLTQKHERMKVYVPTGFSA
FPFELLHTPEKWVRFKYPKLISYSYMVRGGHFAAFEEPELLAQDIRKFLSVLERQ*

Gene Symbol:EPHX1
Accession:NM_001378428
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 374
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWLEILLTSVLGFAIYWFISRDKEETLPLEDGWWGPGTRSAAREDDSIRPFKDLHQRIDKFRFTPPLEDSCFHYGFNSNY
LKKVISYWRNEFDWKKQVEILNRYPHFKTKIEGLDIHFIHVKPPQLPAGHTPKPLLMVHGWPGSFYEFYKIIPLLTDPKN
HGLSDEHVFEVICPSIPGYGFSEASSKKGFNSVATARIFYKLMLRLGFQEFYIQGGDWGSLICTNMAQLVPSHVKGLHLN
MALVLSNFSTLTLLLGQRFGRFLGLTERDVELLYPVKEKVFYSLMRESGYMHIQCTKPDTVGSALNDSPVGLAAYILEKF
STWTNTEFRYLEDGGLERKFSLDDLLTNVMLYWTTGTIISSQRFYKENLGQGWLTQKHERMKVYVPTGFSAFPFELLHTP
EKWVRFKYPKLISYSYMVRGGHFAAFEEPELLAQDIRKFLSVLERQ*

Gene Symbol:EPHX1
Accession:NM_001378431
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 307
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWLEILLTSVLGFAIYWFISRDKEETLPLEDGWWGPGTRSAAREDDSIRPFKVETSDEEIHDLHQRIDKFRFTPPLEDSC
FHYGFNSNYLKKVISYWRNEFDWKKQVEILNRYPHFKTKIEGFNSVATARIFYKLMLRLGFQEFYIQGGDWGSLICTNMA
QLVPSHVKGLHLNMALVLSNFSTLTLLLGQRFGRFLGLTERDVELLYPVKEKVFYSLMRESGYMHIQCTKPDTVGSALND
SPVGLAAYILEKFSTWTNTEFRYLEDGGLERKFSLDDLLTNVMLYWTTGTIISSQRFYKENLGQGWLTQKHERMKVYVPT
GFSAFPFELLHTPEKWVRFKYPKLISYSYMVRGGHFAAFEEPELLAQDIRKFLSVLERQ*

Gene Symbol:EPHX1
Accession:NR_165627
Location:EXON;NON-CODING

Gene Symbol:EPHX1
Accession:NR_165625
Location:EXON;NON-CODING

Gene Symbol:EPHX1
Accession:NR_165626
Location:EXON;NON-CODING

Gene Symbol:EPHX1
Accession:NR_165624
Location:EXON;NON-CODING

Gene Symbol:TMEM63A
Accession:XM_047435146
Location:INTRON

Gene Symbol:TMEM63A
Accession:XM_047435144
Location:INTRON

Gene Symbol:TMEM63A
Accession:XM_047435148
Location:INTRON

Gene Symbol:TMEM63A
Accession:NM_014698
Location:INTRON

Gene Symbol:TMEM63A
Accession:XM_047435145
Location:INTRON

Gene Symbol:TMEM63A
Accession:XM_011544330
Location:INTRON

Gene Symbol:TMEM63A
Accession:XR_007065257
Location:INTRON;NON-CODING

Gene Symbol:TMEM63A
Accession:XR_949163
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004378051 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene EPHX1 CLINVAR
  TMEM63A CLINVAR
OMIM 132810 CLINVAR
  618685 CLINVAR