RGD:401725637 Rat Genome Database

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Variant: RGD:401725637 -  Homo sapiens

RGD ID: 401725637
ClinVar ID: CV2721869
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: METTL4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 18 2,544,269
GRCh38 18 2,544,270
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001308401.2:c.1181+383G>A
NM_022840.5:c.1198G>A
NC_000018.10:g.2544270C>T
NC_000018.9:g.2544269C>T
More... 		05/30/2023 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:METTL4
Accession:NM_022840
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 400
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVVHQLSAGWLLDHLSFINKINYQLHQHHEPCCRKKEFTTSVHFESLQMDSVSSSGVCAAFIASDSSTKPENDDGGNYE
MFTRKFVFRPELFDVTKPYITPAVHKECQQSNEKEDLMNGVKKEISISIIGKKRKRCVVFNQGELDAMEYHTKIRELILD
GSLQLIQEGLKSGFLYPLFEKQDKGSKPITLPLDACSLSELCEMAKHLPSLNEMEHQTLQLVEEDTSVTEQDLFLRVVEN
NSSFTKVITLMGQKYLLPPKSSFLLSDISCMQPLLNYRKTFDVIVIDPPWQNKSVKRSNRYSYLSPLQIQQIPIPKLAAP
NCLLVTWVTNRQKHLRFIKEELYPSWSVEVVAEWHWVKITNSGEFVFPLDSPHKKPYEGLILGRVQEKTALPLRNADVNM
LPIPDHKLIVSVPCTLHSHKPPLAEVLKDYIKPDGEYLELFARNLQPGWTSWGNEVLKFQHVDYFIAVESGS*

Gene Symbol:METTL4
Accession:XM_047437741
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 400
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVVHQLSAGWLLDHLSFINKINYQLHQHHEPCCRKKEFTTSVHFESLQMDSVSSSGVCAAFIASDSSTKPENDDGGNYE
MFTRKFVFRPELFDVTKPYITPAVHKECQQSNEKEDLMNGVKKEISISIIGKKRKRCVVFNQGELDAMEYHTKIRELILD
GSLQLIQEGLKSGFLYPLFEKQDKGSKPITLPLDACSLSELCEMAKHLPSLNEMEHQTLQLVEEDTSVTEQDLFLRVVEN
NSSFTKVITLMGQKYLLPPKSSFLLSDISCMQPLLNYRKTFDVIVIDPPWQNKSVKRSNRYSYLSPLQIQQIPIPKLAAP
NCLLVTWVTNRQKHLRFIKEELYPSWSVEVVAEWHWVKITNSGEFVFPLDSPHKKPYEGLILGRVQEKTALPLRNADVNM
LPIPDHKLIVSVPCTLHSHKPPLAGLLTSSYQKSEQMKQKQTKPFFSVT*

Gene Symbol:METTL4
Accession:XM_005258133
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 253
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEYHTKIRELILDGSLQLIQEGLKSGFLYPLFEKQDKGSKPITLPLDACSLSELCEMAKHLPSLNEMEHQTLQLVEEDTS
VTEQDLFLRVVENNSSFTKVITLMGQKYLLPPKSSFLLSDISCMQPLLNYRKTFDVIVIDPPWQNKSVKRSNRYSYLSPL
QIQQIPIPKLAAPNCLLVTWVTNRQKHLRFIKEELYPSWSVEVVAEWHWVKITNSGEFVFPLDSPHKKPYEGLILGRVQE
KTALPLRNADVNMLPIPDHKLIVSVPCTLHSHKPPLAEVLKDYIKPDGEYLELFARNLQPGWTSWGNEVLKFQHVDYFIA
VESGS*

Gene Symbol:METTL4
Accession:XM_005258132
Location:INTRON

Gene Symbol:METTL4
Accession:NM_001308401
Location:INTRON

Gene Symbol:METTL4
Accession:XM_047437742
Location:INTRON

Gene Symbol:METTL4
Accession:XM_011525730
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004326380 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene METTL4 CLINVAR
OMIM 619626 CLINVAR