RGD:13835646 Rat Genome Database

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Variant: RGD:13835646 -  Homo sapiens

RGD ID: 13835646
RS ID: rs770984830
ClinVar ID: CV586909
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HMGCL  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 24,144,037
GRCh38 1 23,817,547
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000191.3:c.181G>C
NG_013061.1:g.12913G>C
NC_000001.11:g.23817547C>G
NC_000001.10:g.24144037C>G
More... 		01/24/2018 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:HMGCL
Accession:NM_001166059
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAMRKALPRRLVGLASLRAVSTSSMGTLPKRVKIVEVGPRDGLQNEKNIVSTPVKIKLIHMLSEAGLSVIETTSFVSPK
WVPQMGDHTEVLKGIQKFPGINYPVLTPNLKGFEAAVTKKFYSMGCYEISLGDTIGVGTPGIMKDMLSAVMQEVPLAALA
VHCHDTYGQALANTLMALQMGVSVVDSSVAGLGGCPYAQGASGNLATEDLVYMLEGLGIHTGVNLQKLLEAGNFICQALN
RKTSSKVAQATCKL*

Gene Symbol:HMGCL
Accession:NM_000191
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAMRKALPRRLVGLASLRAVSTSSMGTLPKRVKIVEVGPRDGLQNEKNIVSTPVKIKLIHMLSEAGLSVIETTSFVSPK
WVPQMGDHTEVLKGIQKFPGINYPVLTPNLKGFEAAVAAGAKEVVIFGAASELFTKKNINCSIEESFQRFDAILKAAQSA
NISVRGYVSCALGCPYEGKISPAKVAEVTKKFYSMGCYEISLGDTIGVGTPGIMKDMLSAVMQEVPLAALAVHCHDTYGQ
ALANTLMALQMGVSVVDSSVAGLGGCPYAQGASGNLATEDLVYMLEGLGIHTGVNLQKLLEAGNFICQALNRKTSSKVAQ
ATCKL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000731508 CLINVAR
dbSNP (RS) rs770984830 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene HMGCL CLINVAR
OMIM 613898 CLINVAR