RGD:156316769 Rat Genome Database

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Variant: RGD:156316769 -  Homo sapiens

RGD ID: 156316769
ClinVar ID: CV2250956
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OXNAD1  RFTN1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 16,358,555
GRCh38 3 16,317,048
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001330671.3:c.*30+13456T>C
NM_001352978.2:c.*30+13456T>C
NM_001352982.2:c.*30+13456T>C
NM_001352983.2:c.*30+13456T>C
More... 		05/24/2024 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:RFTN1
Accession:XM_017006007
Location:3UTRS;EXON

Gene Symbol:RFTN1
Accession:XM_047447783
Location:3UTRS;EXON

Gene Symbol:RFTN1
Accession:XM_047447781
Location:3UTRS;EXON

Gene Symbol:OXNAD1
Accession:NM_001352981
Location:3UTRS;INTRON

Gene Symbol:OXNAD1
Accession:XM_005265559
Location:3UTRS;INTRON

Gene Symbol:OXNAD1
Accession:XM_011534230
Location:3UTRS;INTRON

Gene Symbol:OXNAD1
Accession:NM_001352982
Location:3UTRS;INTRON

Gene Symbol:OXNAD1
Accession:NM_001352978
Location:3UTRS;INTRON

Gene Symbol:OXNAD1
Accession:XM_011534235
Location:3UTRS;INTRON

Gene Symbol:OXNAD1
Accession:NM_001352983
Location:3UTRS;INTRON

Gene Symbol:OXNAD1
Accession:NM_001330671
Location:3UTRS;INTRON

Gene Symbol:OXNAD1
Accession:NM_001352977
Location:3UTRS;INTRON

Gene Symbol:RFTN1
Accession:XM_047447779
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 541
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFWLSSHQCLLVQSSHHTPVRSSCTPLGSSSLTSLMLCQLLGKWEGREKKNGECKEPYSGGAWSLLTKAAARPPHMKMLS
RIMSELPGSSAVRLASLRDLPAQLLELYQQGFSLAALHPFVQPTHEREKTPLEHIFRAILIKKTDRSQKTDLHNEGYILE
LDCCSSLDHPTDQKLIPEFIKKIQEAASQGLKFVGVIPQYHSSVNSAGSSAPVSTANSTEDARDAKNARGDHASLENEKP
GTGDVCSAPAGRNQSPEPSSGPRGEVPLAKQPSSPSGEGDGGELSPQGVSKTLDGPESNPLEVHEEPLSGKMEIFTLFNK
PKSHQKCRQYYPVTIPLHVSKNGQTVSGLDANWLEHMSDHFRKGGMLVNAVFYLGIVNDSLHGLTDGVFIFEAVSTEDSK
TIQGYDAIVVEQWTVLEGVEVQTDYVPLLNSLAAYGWQLTCVLPTPVVKTTSEGSVSTKQIVFLQRPCLPQKIKKKESKF
QWRFSREEMHNRQMRKSKGKLSARDKQQAEENEKNLEDQSSKAGDMGNCVSGQQQEGGVSAEMKGPVQEDKGEQLSPGGL
LCGVGVEGEAVQNGPASHSRALVGICTGHSNPGEDARDGDAEEVRELGTVEEN*

Gene Symbol:RFTN1
Accession:XM_011533530
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 506
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCGLNKLEKRDEKRPGNIYSTLKRPQVETKIDVSYEYRFLEFTTLSAAELPGSSAVRLASLRDLPAQLLELYQQGFSLA
ALHPFVQPTHEREKTPLEHIFRAILIKKTDRSQKTDLHNEGYILELDCCSSLDHPTDQKLIPEFIKKIQEAASQGLKFVG
VIPQYHSSVNSAGSSAPVSTANSTEDARDAKNARGDHASLENEKPGTGDVCSAPAGRNQSPEPSSGPRGEVPLAKQPSSP
SGEGDGGELSPQGVSKTLDGPESNPLEVHEEPLSGKMEIFTLFNKPKSHQKCRQYYPVTIPLHVSKNGQTVSGLDANWLE
HMSDHFRKGGMLVNAVFYLGIVNDSLHGLTDGVFIFEAVSTEDSKTIQGYDAIVVEQWTVLEGVEVQTDYVPLLNSLAAY
GWQLTCVLPTPVVKTTSEGSVSTKQIVFLQRPCLPQKIKKKESKFQWRFSREEMHNRQMRKSKGKLSARDKQQAEENEKN
LEDQSSKAGDMGNCVSGQQQEGGVSAEMKGPVQEDKGEQLSPGGLLCGVGVEGEAVQNGPASHSRALVGICTGHSNPGED
ARDGDAEEVRELGTVEEN*

Gene Symbol:RFTN1
Accession:XM_005264985
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 506
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCGLNKLEKRDEKRPGNIYSTLKRPQVETKIDVSYEYRFLEFTTLSAAELPGSSAVRLASLRDLPAQLLELYQQGFSLA
ALHPFVQPTHEREKTPLEHIFRAILIKKTDRSQKTDLHNEGYILELDCCSSLDHPTDQKLIPEFIKKIQEAASQGLKFVG
VIPQYHSSVNSAGSSAPVSTANSTEDARDAKNARGDHASLENEKPGTGDVCSAPAGRNQSPEPSSGPRGEVPLAKQPSSP
SGEGDGGELSPQGVSKTLDGPESNPLEVHEEPLSGKMEIFTLFNKPKSHQKCRQYYPVTIPLHVSKNGQTVSGLDANWLE
HMSDHFRKGGMLVNAVFYLGIVNDSLHGLTDGVFIFEAVSTEDSKTIQGYDAIVVEQWTVLEGVEVQTDYVPLLNSLAAY
GWQLTCVLPTPVVKTTSEGSVSTKQIVFLQRPCLPQKIKKKESKFQWRFSREEMHNRQMRKSKGKLSARDKQQAEENEKN
LEDQSSKAGDMGNCVSGQQQEGGVSAEMKGPVQEDKGEQLSPGGLLCGVGVEGEAVQNGPASHSRALVGICTGHSNPGED
ARDGDAEEVRELGTVEEN*

Gene Symbol:RFTN1
Accession:XM_006713069
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 506
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCGLNKLEKRDEKRPGNIYSTLKRPQVETKIDVSYEYRFLEFTTLSAAELPGSSAVRLASLRDLPAQLLELYQQGFSLA
ALHPFVQPTHEREKTPLEHIFRAILIKKTDRSQKTDLHNEGYILELDCCSSLDHPTDQKLIPEFIKKIQEAASQGLKFVG
VIPQYHSSVNSAGSSAPVSTANSTEDARDAKNARGDHASLENEKPGTGDVCSAPAGRNQSPEPSSGPRGEVPLAKQPSSP
SGEGDGGELSPQGVSKTLDGPESNPLEVHEEPLSGKMEIFTLFNKPKSHQKCRQYYPVTIPLHVSKNGQTVSGLDANWLE
HMSDHFRKGGMLVNAVFYLGIVNDSLHGLTDGVFIFEAVSTEDSKTIQGYDAIVVEQWTVLEGVEVQTDYVPLLNSLAAY
GWQLTCVLPTPVVKTTSEGSVSTKQIVFLQRPCLPQKIKKKESKFQWRFSREEMHNRQMRKSKGKLSARDKQQAEENEKN
LEDQSSKAGDMGNCVSGQQQEGGVSAEMKGPVQEDKGEQLSPGGLLCGVGVEGEAVQNGPASHSRALVGICTGHSNPGED
ARDGDAEEVRELGTVEEN*

Gene Symbol:RFTN1
Accession:XM_005264986
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 506
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCGLNKLEKRDEKRPGNIYSTLKRPQVETKIDVSYEYRFLEFTTLSAAELPGSSAVRLASLRDLPAQLLELYQQGFSLA
ALHPFVQPTHEREKTPLEHIFRAILIKKTDRSQKTDLHNEGYILELDCCSSLDHPTDQKLIPEFIKKIQEAASQGLKFVG
VIPQYHSSVNSAGSSAPVSTANSTEDARDAKNARGDHASLENEKPGTGDVCSAPAGRNQSPEPSSGPRGEVPLAKQPSSP
SGEGDGGELSPQGVSKTLDGPESNPLEVHEEPLSGKMEIFTLFNKPKSHQKCRQYYPVTIPLHVSKNGQTVSGLDANWLE
HMSDHFRKGGMLVNAVFYLGIVNDSLHGLTDGVFIFEAVSTEDSKTIQGYDAIVVEQWTVLEGVEVQTDYVPLLNSLAAY
GWQLTCVLPTPVVKTTSEGSVSTKQIVFLQRPCLPQKIKKKESKFQWRFSREEMHNRQMRKSKGKLSARDKQQAEENEKN
LEDQSSKAGDMGNCVSGQQQEGGVSAEMKGPVQEDKGEQLSPGGLLCGVGVEGEAVQNGPASHSRALVGICTGHSNPGED
ARDGDAEEVRELGTVEEN*

Gene Symbol:RFTN1
Accession:NM_015150
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 506
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCGLNKLEKRDEKRPGNIYSTLKRPQVETKIDVSYEYRFLEFTTLSAAELPGSSAVRLASLRDLPAQLLELYQQGFSLA
ALHPFVQPTHEREKTPLEHIFRAILIKKTDRSQKTDLHNEGYILELDCCSSLDHPTDQKLIPEFIKKIQEAASQGLKFVG
VIPQYHSSVNSAGSSAPVSTANSTEDARDAKNARGDHASLENEKPGTGDVCSAPAGRNQSPEPSSGPRGEVPLAKQPSSP
SGEGDGGELSPQGVSKTLDGPESNPLEVHEEPLSGKMEIFTLFNKPKSHQKCRQYYPVTIPLHVSKNGQTVSGLDANWLE
HMSDHFRKGGMLVNAVFYLGIVNDSLHGLTDGVFIFEAVSTEDSKTIQGYDAIVVEQWTVLEGVEVQTDYVPLLNSLAAY
GWQLTCVLPTPVVKTTSEGSVSTKQIVFLQRPCLPQKIKKKESKFQWRFSREEMHNRQMRKSKGKLSARDKQQAEENEKN
LEDQSSKAGDMGNCVSGQQQEGGVSAEMKGPVQEDKGEQLSPGGLLCGVGVEGEAVQNGPASHSRALVGICTGHSNPGED
ARDGDAEEVRELGTVEEN*

Gene Symbol:RFTN1
Accession:XM_047447780
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 506
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCGLNKLEKRDEKRPGNIYSTLKRPQVETKIDVSYEYRFLEFTTLSAAELPGSSAVRLASLRDLPAQLLELYQQGFSLA
ALHPFVQPTHEREKTPLEHIFRAILIKKTDRSQKTDLHNEGYILELDCCSSLDHPTDQKLIPEFIKKIQEAASQGLKFVG
VIPQYHSSVNSAGSSAPVSTANSTEDARDAKNARGDHASLENEKPGTGDVCSAPAGRNQSPEPSSGPRGEVPLAKQPSSP
SGEGDGGELSPQGVSKTLDGPESNPLEVHEEPLSGKMEIFTLFNKPKSHQKCRQYYPVTIPLHVSKNGQTVSGLDANWLE
HMSDHFRKGGMLVNAVFYLGIVNDSLHGLTDGVFIFEAVSTEDSKTIQGYDAIVVEQWTVLEGVEVQTDYVPLLNSLAAY
GWQLTCVLPTPVVKTTSEGSVSTKQIVFLQRPCLPQKIKKKESKFQWRFSREEMHNRQMRKSKGKLSARDKQQAEENEKN
LEDQSSKAGDMGNCVSGQQQEGGVSAEMKGPVQEDKGEQLSPGGLLCGVGVEGEAVQNGPASHSRALVGICTGHSNPGED
ARDGDAEEVRELGTVEEN*

Gene Symbol:OXNAD1
Accession:NM_001330670
Location:INTRON

Gene Symbol:OXNAD1
Accession:NM_001352980
Location:INTRON

Gene Symbol:OXNAD1
Accession:NM_138381
Location:INTRON

Gene Symbol:OXNAD1
Accession:XR_007095766
Location:INTRON;NON-CODING

Gene Symbol:OXNAD1
Accession:XR_007095767
Location:INTRON;NON-CODING

Gene Symbol:OXNAD1
Accession:NR_148217
Location:INTRON;NON-CODING

Gene Symbol:OXNAD1
Accession:NR_148218
Location:INTRON;NON-CODING

Gene Symbol:OXNAD1
Accession:NR_148219
Location:INTRON;NON-CODING

Gene Symbol:OXNAD1
Accession:NR_148220
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004123531 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene OXNAD1 CLINVAR
  RFTN1 CLINVAR
OMIM 618210 CLINVAR
  620581 CLINVAR