RGD:155921639 Rat Genome Database

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Variant: RGD:155921639 -  Homo sapiens

RGD ID: 155921639
ClinVar ID: CV2350702
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130055732  TOMM20L  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 58,862,779
GRCh38 14 58,396,061
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_207377.3:c.104G>A
NC_000014.9:g.58396061G>A
NC_000014.8:g.58862779G>A
NM_207377.2:c.104G>A
More... 		06/24/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TOMM20L
Accession:XM_011536743
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSVRSLLRLLAAAAACGAFAFLGYCIYLNRKRREDPAFKRRLRDKRRAEPQKAEEQGTQVQCFRSAQLWDPTKNKKLQE
LFLQEVRMGELWLSRGEHRMGIQHLGNALLVCEQPRELLKVFKHTLPPKVFEMLLHKIPLICQ*

Gene Symbol:TOMM20L
Accession:XM_011536744
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSVRSLLRLLAAAAACGAFAFLGYCIYLNRKRREDPAFKRRLRDREHRMGIQHLGNALLVCEQPRELLKVFKHTLPPKV
FEMLLHKIPLICQQFEADMNEQDCLEDDPD*

Gene Symbol:TOMM20L
Accession:XM_011536742
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSVRSLLRLLAAAAACGAFAFLGYCIYLNRKRREDPAFKRRLRDKRRAEPQKAEEQGTQVQCFRSAQLWDPTKNKKLQE
LFLQEVRMGELWLSRGEHRMGIQHLGNALLVCEQPRELLKVFKHTLPPKVFEMLLHKIPLICQQFEADMNEQDCLEDDPD
*

Gene Symbol:TOMM20L
Accession:NM_207377
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSVRSLLRLLAAAAACGAFAFLGYCIYLNRKRREDPAFKRRLRDKRRAEPQKAEEQGTQLWDPTKNKKLQELFLQEVRM
GELWLSRGEHRMGIQHLGNALLVCEQPRELLKVFKHTLPPKVFEMLLHKIPLICQQFEADMNEQDCLEDDPD*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004207051 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LOC130055732 CLINVAR
  TOMM20L CLINVAR