RGD:156300852 Rat Genome Database

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Pathways
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Variant: RGD:156300852 -  Homo sapiens

RGD ID: 156300852
ClinVar ID: CV2248886
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: METTL14  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 119,626,814
GRCh38 4 118,705,659
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020961.4:c.904G>A
NC_000004.12:g.118705659G>A
NC_000004.11:g.119626814G>A
NM_020961.2:c.904G>A
More... 		11/22/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:METTL14
Accession:XM_047416029
Location:3UTRS;EXON

Gene Symbol:METTL14
Accession:NM_020961
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 302
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSRLQEIRERQKLRRQLLAQQLGAESADSIGAVLNSKDEQREIAETRETCRASYDTSAPNAKRKYLDEGETDEDKMEEY
KDELEMQQDEENLPYEEEIYKDSSTFLKGTQSLNPHNDYCQHFVDTGHRPQNFIRDVGLADRFEEYPKLRELIRLKDELI
AKSNTPPMYLQADIEAFDIRELTPKFDVILLEPPLEEYYRETGITANEKCWTWDDIMKLEIDEIAAPRSFIFLWCGSGEG
LDLGRVCLRKWGYRRCEDICWIKTNKNNPGKTKTLDPKAVFQRTKEHCLMGIKGTVKRSTDRDFIHANVDIDLIITEEPE
IGNIEKPVEIFHIIEHFCLGRRRLHLFGRDSTIRPGWLTVGPTLTNSNYNAETYASYFSAPNSYLTGCTEEIERLRPKSP
PPKSKSDRGGGAPRGGGRGGTSAGRGRERNRSNFRGERGGFRGGRGGAHRGGFPPR*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004115895 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene METTL14 CLINVAR
OMIM 616504 CLINVAR