RGD:13528844 Rat Genome Database

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Variant: RGD:13528844 -  Homo sapiens

RGD ID: 13528844
RS ID: rs781767219
ClinVar ID: CV513623
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALDH6A1  BBOF1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 74,533,476
GRCh38 14 74,066,773
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012257.2:g.22721C>T
NP_005580.1:p.Arg386Ter
NC_000014.8:g.74533476G>A
NC_000014.9:g.74066773G>A
More... 		10/10/2023 nonsense pathogenic|likely pathogenic|uncertain significance MMSDH DEFICIENCY; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ALDH6A1
Accession:NM_005589
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 386
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALLAAAAVRARILQVSSKVKSSPTWYSASSFSSSVPTVKLFIGGKFVESKSDKWIDIHNPATNEVIGRVPQATKAEMD
AAIASCKRAFPAWADTSVLSRQQVLLRYQQLIKENLKEIAKLITLEQGKTLADAEGDVFRGLQVVEHACSVTSLMMGETM
PSITKDMDLYSYRLPLGVCAGIAPFNFPAMIPLWMFPMAMVCGNTFLMKPSERVPGATMLLAKLLQDSGAPDGTLNIIHG
QHEAVNFICDHPDIKAISFVGSNKAGEYIFERGSRHGKRVQANMGAKNHGVVMPDANKENTLNQLVGAAFGAAGQRCMAL
STAVLVGEAKKWLPELVEHAKNLRVNAGDQPGADLGPLITPQAKERVCNLIDSGTKEGASILLDGRKIKVKGYENGNFVG
PTIISNVKPNMTCYKEEIFGPVLVVLETETLDEAIQIVNNNPYGNGTAIFTTNGATARKYAHLVDVGQVGVNVPIPVPLP
MFSFTGSRSSFRGDTNFYGKQGIQFYTQLKTITSQWKEEDATLSSPAVVMPTMGR*

Gene Symbol:ALDH6A1
Accession:NM_001278593
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 373
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALLAAAAVRARILQVSSKVKSSPTWYSASSFSSSVPTVKLFIGGKFVESKSDKWIDIHNPATNEVIGRVPQATKAEMD
AAIASCKRAFPAWADTSVLSRQQKEIAKLITLEQGKTLADAEGDVFRGLQVVEHACSVTSLMMGETMPSITKDMDLYSYR
LPLGVCAGIAPFNFPAMIPLWMFPMAMVCGNTFLMKPSERVPGATMLLAKLLQDSGAPDGTLNIIHGQHEAVNFICDHPD
IKAISFVGSNKAGEYIFERGSRHGKRVQANMGAKNHGVVMPDANKENTLNQLVGAAFGAAGQRCMALSTAVLVGEAKKWL
PELVEHAKNLRVNAGDQPGADLGPLITPQAKERVCNLIDSGTKEGASILLDGRKIKVKGYENGNFVGPTIISNVKPNMTC
YKEEIFGPVLVVLETETLDEAIQIVNNNPYGNGTAIFTTNGATARKYAHLVDVGQVGVNVPIPVPLPMFSFTGSRSSFRG
DTNFYGKQGIQFYTQLKTITSQWKEEDATLSSPAVVMPTMGR*

Gene Symbol:ALDH6A1
Accession:NM_001278594
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 232
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMGETMPSITKDMDLYSYRLPLGVCAGIAPFNFPAMIPLWMFPMAMVCGNTFLMKPSERVPGATMLLAKLLQDSGAPDGT
LNIIHGQHEAVNFICDHPDIKAISFVGSNKAGEYIFERGSRHGKRVQANMGAKNHGVVMPDANKENTLNQLVGAAFGAAG
QRCMALSTAVLVGEAKKWLPELVEHAKNLRVNAGDQPGADLGPLITPQAKERVCNLIDSGTKEGASILLDGRKIKVKGYE
NGNFVGPTIISNVKPNMTCYKEEIFGPVLVVLETETLDEAIQIVNNNPYGNGTAIFTTNGATARKYAHLVDVGQVGVNVP
IPVPLPMFSFTGSRSSFRGDTNFYGKQGIQFYTQLKTITSQWKEEDATLSSPAVVMPTMGR*

Gene Symbol:BBOF1
Accession:NM_025057
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537179
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_017021660
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431782
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431780
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537176
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_017021661
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_017021662
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431783
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537178
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537175
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431785
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537170
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431784
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537171
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431781
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431779
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_005268092
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537174
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537177
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431778
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_017021663
Location:INTRON

Gene Symbol:BBOF1
Accession:XR_007064049
Location:INTRON;NON-CODING

Gene Symbol:BBOF1
Accession:XR_007064048
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000626131 CLINVAR
  RCV002529778 CLINVAR
  RCV003767838 CLINVAR
dbSNP (RS) rs781767219 CLINVAR
MedGen C0950123 CLINVAR
  C3279840 CLINVAR
  C3661900 CLINVAR
NCBI Gene ALDH6A1 CLINVAR
  BBOF1 CLINVAR
OMIM 603178 CLINVAR
  614105 CLINVAR
  620496 CLINVAR