RGD:156318549 Rat Genome Database

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Variant: RGD:156318549 -  Homo sapiens

RGD ID: 156318549
ClinVar ID: CV2260705
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HOMEZ  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 23,745,668
GRCh38 14 23,276,459
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.697C>T
NM_020834.3:c.769C>T
NC_000014.9:g.23276459G>A
NC_000014.8:g.23745668G>A
More... 		11/15/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:HOMEZ
Accession:NM_020834
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 257
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRGWEPPPGLDCAISEGHKSEGTMPPNKEASGLSSSPAGLICLPPISEELQLVWTQAAQTSELDSNEHLLKTFSYFPYP
SLADIALLCLRYGLQMEKVKTWFMAQRLRCGISWSSEEIEETRARVVYRRDQLHFKSLLSFTHHAGRPPEEVPPPPVPAP
EQVGIGIGPPTLSKPTQTKGLKVEPEEPSQMPPLPQSHQKLKESLMTPGSGAFPYQSDFWQHLQSSGLSKEQAGRGPNQS
HGIGTASWNHSTTVPQSQARDKPPPIALIASSCKEESASSVTPSSSSTSSSFQVLANGATAASKPLQPLGCVPQSVSPSE
QALPPHLEPAWPQGLRHNSVPGRVGPTEYLSPDMQRQRKTKRKTKEQLAILKSFFLQCQWARREDYQKLEQITGLPRPEI
IQWFGDTRYALKHGQLKWFRDNAVPGAPSFQDPAIPTPPPSTRSLNERAETPPLPIPPPPPDIQPLERYWAAHQQLRETD
IPQLSQASRLSTQQVLDWFDSRLPQPAEVVVCLDEEEEEEEEELPEDDEEEEEEEEEDDDDDDDDVIIQD*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004125637 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene HOMEZ CLINVAR
OMIM 608119 CLINVAR