RGD:401861458 Rat Genome Database

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Variant: RGD:401861458 -  Homo sapiens

RGD ID: 401861458
ClinVar ID: CV2779760
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BLMH  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 28,599,609
GRCh38 17 30,272,591
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000386.4:c.998A>C
NG_011440.1:g.24466A>C
NC_000017.10:g.28599609T>G
NM_000386.3:c.998A>C
More... 		06/29/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:BLMH
Accession:NM_000386
Location:EXON
Amino Acid Prediction: N to T (nonsynonymous)
Amino Acid Position: 333
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSSGLNSEKVAALIQKLNSDPQFVLAQNVGTTHDLLDICLKRATVQRAQHVFQHAVPQEGKPITNQKSSGRCWIFSCLN
VMRLPFMKKLNIEEFEFSQSYLFFWDKVERCYFFLSAFVDTAQRKEPEDGRLVQFLLMNPANDGGQWDMLVNIVEKYGVI
PKKCFPESYTTEATRRMNDILNHKMREFCIRLRNLVHSGATKGEISATQDVMMEEIFRVVCICLGNPPETFTWEYRDKDK
NYQKIGPITPLEFYREHVKPLFNMEDKICLVNDPRPQHKYNKLYTVEYLSNMVGGRKTLYNNQPIDFLKKMVAASIKDGE
AVWFGCDVGKHFTSKLGLSDMNLYDHELVFGVSLKNMNKAERLTFGESLMTHAMTFTAVSEKDDQDGAFTKWRVENSWGE
DHGHKGYLCMTDEWFSEYVYEVVVDRKHVPEEVLAVLEQEPIILPAWDPMGALAE*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004353396 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene BLMH CLINVAR
OMIM 602403 CLINVAR