RGD:156082372 Rat Genome Database

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Variant: RGD:156082372 -  Homo sapiens

RGD ID: 156082372
ClinVar ID: CV2368905
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BLMH  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 28,599,613
GRCh38 17 30,272,595
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.994T>G
NG_011440.1:g.24462T>G
NC_000017.11:g.30272595A>C
NC_000017.10:g.28599613A>C
More... 		04/14/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:BLMH
Accession:NM_000386
Location:EXON
Amino Acid Prediction: F to V (nonsynonymous)
Amino Acid Position: 332
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSSGLNSEKVAALIQKLNSDPQFVLAQNVGTTHDLLDICLKRATVQRAQHVFQHAVPQEGKPITNQKSSGRCWIFSCLN
VMRLPFMKKLNIEEFEFSQSYLFFWDKVERCYFFLSAFVDTAQRKEPEDGRLVQFLLMNPANDGGQWDMLVNIVEKYGVI
PKKCFPESYTTEATRRMNDILNHKMREFCIRLRNLVHSGATKGEISATQDVMMEEIFRVVCICLGNPPETFTWEYRDKDK
NYQKIGPITPLEFYREHVKPLFNMEDKICLVNDPRPQHKYNKLYTVEYLSNMVGGRKTLYNNQPIDFLKKMVAASIKDGE
AVWFGCDVGKHVNSKLGLSDMNLYDHELVFGVSLKNMNKAERLTFGESLMTHAMTFTAVSEKDDQDGAFTKWRVENSWGE
DHGHKGYLCMTDEWFSEYVYEVVVDRKHVPEEVLAVLEQEPIILPAWDPMGALAE*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004207860 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene BLMH CLINVAR
OMIM 602403 CLINVAR