RGD:15113976 Rat Genome Database

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Variant: RGD:15113976 -  Homo sapiens

RGD ID: 15113976
RS ID: rs756615138
ClinVar ID: CV780282
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTHFR  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 11,850,876
GRCh38 1 11,790,819
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001330358.2:c.1955A>G
NC_000001.10:g.11850876T>C
NM_005957.4:c.1832A>G
NP_005948.3:p.Tyr611Cys
More... 		06/18/2020 missense variant likely benign 5,10-alpha-methylenetetrahydro-folate reductase deficiency; Homocysteinemia due to methylenetetrahydro-folate reductase deficiency; Homocysteinemia due to MTHFR deficiency; Homocysteinuria due to methylenetetrahydro-folate reductase deficiency; HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY; Homocystinuria due to MTHFR deficiency; Methylenetetrahydro-folate reductase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MTHFR
Accession:NM_001330358
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 652
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDHRKARVLPAGHYCPSLGIWASQVGSVRSSVPPSISRNPAMVNEARGNSSLNPCLEGSASSGSESSKDSSRCSTPGLDP
ERHERLREKMRRRLESGDKWFSLEFFPPRTAEGAVNLISRFDRMAAGGPLYIDVTWHPAGDPGSDKETSSMMIASTAVNY
CGLETILHMTCCRQRLEEITGHLHKAKQLGLKNIMALRGDPIGDQWEEEEGGFNYAVDLVKHIRSEFGDYFDICVAGYPK
GHPEAGSFEADLKHLKEKVSAGADFIITQLFFEADTFFRFVKACTDMGITCPIVPGIFPIQGYHSLRQLVKLSKLEVPQE
IKDVIEPIKDNDAAIRNYGIELAVSLCQELLASGLVPGLHFYTLNREMATTEVLKRLGMWTEDPRRPLPWALSAHPKRRE
EDVRPIFWASRPKSYIYRTQEWDEFPNGRWGNSSSPAFGELKDYYLFYLKSKSPKEELLKMWGEELTSEESVFEVFVLYL
SGEPNRNGHKVTCLPWNDEPLAAETSLLKEELLRVNRQGILTINSQPNINGKPSSDPIVGWGPSGGYVFQKAYLEFFTSR
ETAEALLQVLKKYELRVNYHLVNVKGENITNAPELQPNAVTWGIFPGREIIQPTVVDPVSFMFWKDEAFALWIERWGKLY
EEESPSRTIIQCIHDNYFLVNLVDNDFPLDNCLWQVVEDTLELLNRPTQNARETEAP*

Gene Symbol:MTHFR
Accession:NM_005957
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 611
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVNEARGNSSLNPCLEGSASSGSESSKDSSRCSTPGLDPERHERLREKMRRRLESGDKWFSLEFFPPRTAEGAVNLISRF
DRMAAGGPLYIDVTWHPAGDPGSDKETSSMMIASTAVNYCGLETILHMTCCRQRLEEITGHLHKAKQLGLKNIMALRGDP
IGDQWEEEEGGFNYAVDLVKHIRSEFGDYFDICVAGYPKGHPEAGSFEADLKHLKEKVSAGADFIITQLFFEADTFFRFV
KACTDMGITCPIVPGIFPIQGYHSLRQLVKLSKLEVPQEIKDVIEPIKDNDAAIRNYGIELAVSLCQELLASGLVPGLHF
YTLNREMATTEVLKRLGMWTEDPRRPLPWALSAHPKRREEDVRPIFWASRPKSYIYRTQEWDEFPNGRWGNSSSPAFGEL
KDYYLFYLKSKSPKEELLKMWGEELTSEESVFEVFVLYLSGEPNRNGHKVTCLPWNDEPLAAETSLLKEELLRVNRQGIL
TINSQPNINGKPSSDPIVGWGPSGGYVFQKAYLEFFTSRETAEALLQVLKKYELRVNYHLVNVKGENITNAPELQPNAVT
WGIFPGREIIQPTVVDPVSFMFWKDEAFALWIERWGKLYEEESPSRTIIQCIHDNYFLVNLVDNDFPLDNCLWQVVEDTL
ELLNRPTQNARETEAP*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 651
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDHRKARVLPAGHYCPSLGIWASQVGSVRSSVPPSIRNPAMVNEARGNSSLNPCLEGSASSGSESSKDSSRCSTPGLDPE
RHERLREKMRRRLESGDKWFSLEFFPPRTAEGAVNLISRFDRMAAGGPLYIDVTWHPAGDPGSDKETSSMMIASTAVNYC
GLETILHMTCCRQRLEEITGHLHKAKQLGLKNIMALRGDPIGDQWEEEEGGFNYAVDLVKHIRSEFGDYFDICVAGYPKG
HPEAGSFEADLKHLKEKVSAGADFIITQLFFEADTFFRFVKACTDMGITCPIVPGIFPIQGYHSLRQLVKLSKLEVPQEI
KDVIEPIKDNDAAIRNYGIELAVSLCQELLASGLVPGLHFYTLNREMATTEVLKRLGMWTEDPRRPLPWALSAHPKRREE
DVRPIFWASRPKSYIYRTQEWDEFPNGRWGNSSSPAFGELKDYYLFYLKSKSPKEELLKMWGEELTSEESVFEVFVLYLS
GEPNRNGHKVTCLPWNDEPLAAETSLLKEELLRVNRQGILTINSQPNINGKPSSDPIVGWGPSGGYVFQKAYLEFFTSRE
TAEALLQVLKKYELRVNYHLVNVKGENITNAPELQPNAVTWGIFPGREIIQPTVVDPVSFMFWKDEAFALWIERWGKLYE
EESPSRTIIQCIHDNYFLVNLVDNDFPLDNCLWQVVEDTLELLNRPTQNARETEAP*

Gene Symbol:MTHFR
Accession:NM_001410750
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 651
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDHRKARVLPAGHYCPSLGIWASQVGSVRSSVPPSIRNPAMVNEARGNSSLNPCLEGSASSGSESSKDSSRCSTPGLDPE
RHERLREKMRRRLESGDKWFSLEFFPPRTAEGAVNLISRFDRMAAGGPLYIDVTWHPAGDPGSDKETSSMMIASTAVNYC
GLETILHMTCCRQRLEEITGHLHKAKQLGLKNIMALRGDPIGDQWEEEEGGFNYAVDLVKHIRSEFGDYFDICVAGYPKG
HPEAGSFEADLKHLKEKVSAGADFIITQLFFEADTFFRFVKACTDMGITCPIVPGIFPIQGYHSLRQLVKLSKLEVPQEI
KDVIEPIKDNDAAIRNYGIELAVSLCQELLASGLVPGLHFYTLNREMATTEVLKRLGMWTEDPRRPLPWALSAHPKRREE
DVRPIFWASRPKSYIYRTQEWDEFPNGRWGNSSSPAFGELKDYYLFYLKSKSPKEELLKMWGEELTSEESVFEVFVLYLS
GEPNRNGHKVTCLPWNDEPLAAETSLLKEELLRVNRQGILTINSQPNINGKPSSDPIVGWGPSGGYVFQKAYLEFFTSRE
TAEALLQVLKKYELRVNYHLVNVKGENITNAPELQPNAVTWGIFPGREIIQPTVVDPVSFMFWKDEAFALWIERWGKLYE
EESPSRTIIQCIHDNYFLVNLVDNDFPLDNCLWQVVEDTLELLNRPTQNARETEAP*

Gene Symbol:MTHFR
Accession:XM_005263463
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 529
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGGPLYIDVTWHPAGDPGSDKETSSMMIASTAVNYCGLETILHMTCCRQRLEEITGHLHKAKQLGLKNIMALRGDPIG
DQWEEEEGGFNYAVDLVKHIRSEFGDYFDICVAGYPKGHPEAGSFEADLKHLKEKVSAGADFIITQLFFEADTFFRFVKA
CTDMGITCPIVPGIFPIQGYHSLRQLVKLSKLEVPQEIKDVIEPIKDNDAAIRNYGIELAVSLCQELLASGLVPGLHFYT
LNREMATTEVLKRLGMWTEDPRRPLPWALSAHPKRREEDVRPIFWASRPKSYIYRTQEWDEFPNGRWGNSSSPAFGELKD
YYLFYLKSKSPKEELLKMWGEELTSEESVFEVFVLYLSGEPNRNGHKVTCLPWNDEPLAAETSLLKEELLRVNRQGILTI
NSQPNINGKPSSDPIVGWGPSGGYVFQKAYLEFFTSRETAEALLQVLKKYELRVNYHLVNVKGENITNAPELQPNAVTWG
IFPGREIIQPTVVDPVSFMFWKDEAFALWIERWGKLYEEESPSRTIIQCIHDNYFLVNLVDNDFPLDNCLWQVVEDTLEL
LNRPTQNARETEAP*

Gene Symbol:MTHFR
Accession:XM_005263462
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 611
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVNEARGNSSLNPCLEGSASSGSESSKDSSRCSTPGLDPERHERLREKMRRRLESGDKWFSLEFFPPRTAEGAVNLISRF
DRMAAGGPLYIDVTWHPAGDPGSDKETSSMMIASTAVNYCGLETILHMTCCRQRLEEITGHLHKAKQLGLKNIMALRGDP
IGDQWEEEEGGFNYAVDLVKHIRSEFGDYFDICVAGYPKGHPEAGSFEADLKHLKEKVSAGADFIITQLFFEADTFFRFV
KACTDMGITCPIVPGIFPIQGYHSLRQLVKLSKLEVPQEIKDVIEPIKDNDAAIRNYGIELAVSLCQELLASGLVPGLHF
YTLNREMATTEVLKRLGMWTEDPRRPLPWALSAHPKRREEDVRPIFWASRPKSYIYRTQEWDEFPNGRWGNSSSPAFGEL
KDYYLFYLKSKSPKEELLKMWGEELTSEESVFEVFVLYLSGEPNRNGHKVTCLPWNDEPLAAETSLLKEELLRVNRQGIL
TINSQPNINGKPSSDPIVGWGPSGGYVFQKAYLEFFTSRETAEALLQVLKKYELRVNYHLVNVKGENITNAPELQPNAVT
WGIFPGREIIQPTVVDPVSFMFWKDEAFALWIERWGKLYEEESPSRTIIQCIHDNYFLVNLVDNDFPLDNCLWQVVEDTL
ELLNRPTQNARETEAP*

Gene Symbol:MTHFR
Accession:XM_047421178
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 611
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVNEARGNSSLNPCLEGSASSGSESSKDSSRCSTPGLDPERHERLREKMRRRLESGDKWFSLEFFPPRTAEGAVNLISRF
DRMAAGGPLYIDVTWHPAGDPGSDKETSSMMIASTAVNYCGLETILHMTCCRQRLEEITGHLHKAKQLGLKNIMALRGDP
IGDQWEEEEGGFNYAVDLVKHIRSEFGDYFDICVAGYPKGHPEAGSFEADLKHLKEKVSAGADFIITQLFFEADTFFRFV
KACTDMGITCPIVPGIFPIQGYHSLRQLVKLSKLEVPQEIKDVIEPIKDNDAAIRNYGIELAVSLCQELLASGLVPGLHF
YTLNREMATTEVLKRLGMWTEDPRRPLPWALSAHPKRREEDVRPIFWASRPKSYIYRTQEWDEFPNGRWGNSSSPAFGEL
KDYYLFYLKSKSPKEELLKMWGEELTSEESVFEVFVLYLSGEPNRNGHKVTCLPWNDEPLAAETSLLKEELLRVNRQGIL
TINSQPNINGKPSSDPIVGWGPSGGYVFQKAYLEFFTSRETAEALLQVLKKYELRVNYHLVNVKGENITNAPELQPNAVT
WGIFPGREIIQPTVVDPVSFMFWKDEAFALWIERWGKLYEEESPSRTIIQCIHDNYFLVNLVDNDFPLDNCLWQVVEDTL
ELLNRPTQNARETEAP*

Gene Symbol:MTHFR
Accession:XM_047421174
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_047421179
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_017001328
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_047421181
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_011541496
Location:INTRON

Gene Symbol:MTHFR
Accession:XM_047421180
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000978126 CLINVAR
dbSNP (RS) rs756615138 CLINVAR
MedGen C1856058 CLINVAR
NCBI Gene MTHFR CLINVAR
OMIM 236250 CLINVAR
  607093 CLINVAR