RGD:155989667 Rat Genome Database

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Variant: RGD:155989667 -  Homo sapiens

RGD ID: 155989667
ClinVar ID: CV2371965
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HOMEZ  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 23,745,289
GRCh38 14 23,276,080
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001010849.1:c.1076G>A
NM_020834.3:c.1148G>A
NC_000014.9:g.23276080C>T
NC_000014.8:g.23745289C>T
More... 		08/17/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:HOMEZ
Accession:NM_020834
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 383
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRGWEPPPGLDCAISEGHKSEGTMPPNKEASGLSSSPAGLICLPPISEELQLVWTQAAQTSELDSNEHLLKTFSYFPYP
SLADIALLCLRYGLQMEKVKTWFMAQRLRCGISWSSEEIEETRARVVYRRDQLHFKSLLSFTHHAGRPPEEVPPPPVPAP
EQVGIGIGPPTLSKPTQTKGLKVEPEEPSQMPPLPQSHQKLKESLMTPGSGAFPYQSDFWQHLQSSGLSKEQAGRGPNQS
HGIGTASWNHSTTVPQPQARDKPPPIALIASSCKEESASSVTPSSSSTSSSFQVLANGATAASKPLQPLGCVPQSVSPSE
QALPPHLEPAWPQGLRHNSVPGRVGPTEYLSPDMQRQRKTKRKTKEQLAILKSFFLQCQWARHEDYQKLEQITGLPRPEI
IQWFGDTRYALKHGQLKWFRDNAVPGAPSFQDPAIPTPPPSTRSLNERAETPPLPIPPPPPDIQPLERYWAAHQQLRETD
IPQLSQASRLSTQQVLDWFDSRLPQPAEVVVCLDEEEEEEEEELPEDDEEEEEEEEEDDDDDDDDVIIQD*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004221642 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene HOMEZ CLINVAR
OMIM 608119 CLINVAR