RGD:8559448 Rat Genome Database

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Variant: RGD:8559448 -  Homo sapiens

RGD ID: 8559448
RS ID: rs72552258
ClinVar ID: CV21656
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALDH6A1  BBOF1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 74,531,952
GRCh38 14 74,065,249
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_012257.2:g.24245G>A
NC_000014.9:g.74065249C>T
NC_000014.8:g.74531952C>T
NP_005580.1:p.Gly446Arg
More... 		08/02/2011 3 prime utr variant|missense|missense variant pathogenic neonatal/infancy <1 / 1 000 000 MMSDH DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BBOF1
Accession:XM_011537171
Location:3UTRS;EXON

Gene Symbol:BBOF1
Accession:XM_047431778
Location:3UTRS;EXON

Gene Symbol:BBOF1
Accession:XM_011537174
Location:3UTRS;EXON

Gene Symbol:BBOF1
Accession:XM_017021663
Location:3UTRS;EXON

Gene Symbol:BBOF1
Accession:XM_017021661
Location:3UTRS;EXON

Gene Symbol:BBOF1
Accession:NM_025057
Location:3UTRS;EXON

Gene Symbol:BBOF1
Accession:XM_017021662
Location:3UTRS;EXON

Gene Symbol:BBOF1
Accession:XM_017021660
Location:3UTRS;EXON

Gene Symbol:BBOF1
Accession:XM_047431781
Location:3UTRS;EXON

Gene Symbol:BBOF1
Accession:XM_047431779
Location:3UTRS;EXON

Gene Symbol:ALDH6A1
Accession:NM_001278594
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 292
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMGETMPSITKDMDLYSYRLPLGVCAGIAPFNFPAMIPLWMFPMAMVCGNTFLMKPSERVPGATMLLAKLLQDSGAPDGT
LNIIHGQHEAVNFICDHPDIKAISFVGSNKAGEYIFERGSRHGKRVQANMGAKNHGVVMPDANKENTLNQLVGAAFGAAG
QRCMALSTAVLVGEAKKWLPELVEHAKNLRVNAGDQPGADLGPLITPQAKERVCNLIDSGTKEGASILLDGRKIKVKGYE
NGNFVGPTIISNVKPNMTCYKEEIFGPVLVVLETETLDEAIQIVNNNPYGN*TAIFTTNGATARKYAHLVDVGQVGVNVP
IPVPLPMFSFTGSRSSFRGDTNFYGKQGIQFYTQLKTITSQWKEEDATLSSPAVVMPTMGR*

Gene Symbol:ALDH6A1
Accession:NM_001278593
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 433
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALLAAAAVRARILQVSSKVKSSPTWYSASSFSSSVPTVKLFIGGKFVESKSDKWIDIHNPATNEVIGRVPQATKAEMD
AAIASCKRAFPAWADTSVLSRQQKEIAKLITLEQGKTLADAEGDVFRGLQVVEHACSVTSLMMGETMPSITKDMDLYSYR
LPLGVCAGIAPFNFPAMIPLWMFPMAMVCGNTFLMKPSERVPGATMLLAKLLQDSGAPDGTLNIIHGQHEAVNFICDHPD
IKAISFVGSNKAGEYIFERGSRHGKRVQANMGAKNHGVVMPDANKENTLNQLVGAAFGAAGQRCMALSTAVLVGEAKKWL
PELVEHAKNLRVNAGDQPGADLGPLITPQAKERVCNLIDSGTKEGASILLDGRKIKVKGYENGNFVGPTIISNVKPNMTC
YKEEIFGPVLVVLETETLDEAIQIVNNNPYGN*TAIFTTNGATARKYAHLVDVGQVGVNVPIPVPLPMFSFTGSRSSFRG
DTNFYGKQGIQFYTQLKTITSQWKEEDATLSSPAVVMPTMGR*

Gene Symbol:ALDH6A1
Accession:NM_005589
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 446
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALLAAAAVRARILQVSSKVKSSPTWYSASSFSSSVPTVKLFIGGKFVESKSDKWIDIHNPATNEVIGRVPQATKAEMD
AAIASCKRAFPAWADTSVLSRQQVLLRYQQLIKENLKEIAKLITLEQGKTLADAEGDVFRGLQVVEHACSVTSLMMGETM
PSITKDMDLYSYRLPLGVCAGIAPFNFPAMIPLWMFPMAMVCGNTFLMKPSERVPGATMLLAKLLQDSGAPDGTLNIIHG
QHEAVNFICDHPDIKAISFVGSNKAGEYIFERGSRHGKRVQANMGAKNHGVVMPDANKENTLNQLVGAAFGAAGQRCMAL
STAVLVGEAKKWLPELVEHAKNLRVNAGDQPGADLGPLITPQAKERVCNLIDSGTKEGASILLDGRKIKVKGYENGNFVG
PTIISNVKPNMTCYKEEIFGPVLVVLETETLDEAIQIVNNNPYGN*TAIFTTNGATARKYAHLVDVGQVGVNVPIPVPLP
MFSFTGSRSSFRGDTNFYGKQGIQFYTQLKTITSQWKEEDATLSSPAVVMPTMGR*

Gene Symbol:BBOF1
Accession:XM_011537170
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431782
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537178
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431785
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537175
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537177
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431780
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431784
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431783
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_005268092
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537176
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537179
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:3117077   PMID:3939535   PMID:10947204  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000006996 CLINVAR
dbSNP (RS) rs72552258 CLINVAR
MedGen C3279840 CLINVAR
NCBI Gene ALDH6A1 CLINVAR
  CCDC176 CLINVAR
OMIM 603178 CLINVAR
  614105 CLINVAR
OMIM Allele 603178.0001 CLINVAR