RGD:155930629 Rat Genome Database

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Variant: RGD:155930629 -  Homo sapiens

RGD ID: 155930629
ClinVar ID: CV2224774
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMBIM6  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 50,136,005
GRCh38 12 49,742,222
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001098576.2:c.86G>T
NC_000012.12:g.49742222G>T
NC_000012.11:g.50136005G>T
NM_001098576.1:c.86G>T
More... 		07/06/2021 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TMBIM6
Accession:XM_047429493
Location:5UTRS;EXON

Gene Symbol:TMBIM6
Accession:XM_047429492
Location:5UTRS;INTRON

Gene Symbol:TMBIM6
Accession:NM_001414463
Location:5UTRS;INTRON

Gene Symbol:TMBIM6
Accession:NM_003217
Location:5UTRS;INTRON

Gene Symbol:TMBIM6
Accession:XM_047429491
Location:5UTRS;INTRON

Gene Symbol:TMBIM6
Accession:NM_001414464
Location:5UTRS;INTRON

Gene Symbol:TMBIM6
Accession:NM_001414462
Location:5UTRS;INTRON

Gene Symbol:TMBIM6
Accession:XM_005269126
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHSSVTREAPQLLSQRQRREVRGVWGWVCLPGPRGGPALFGLVTFGQSGDCCTDSGTMNIFDRKINFDALLKFSHITPS
TQQHLKKVYASFALCMFVAAAGAYVHMVTHFIQAGLLSALGSLILMIWLMATPHSHETEQKRLGLLAGFAFLTGVGLGPA
LEFCIAVNPSILPTAFMGTAMIFTCFTLSALYARRRSYLFLGGILMSALSLLLLSSLGNVFFGSIWLFQANLYVGLVVMC
GFVLFDTQLIIEKAEHGDQDYIWHCIDLFLDFITVFRKLMMILAMNEKDKKKEKK*

Gene Symbol:TMBIM6
Accession:NM_001098576
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHSSVTREAPQLLSQRQRREVRGVWGWVCLPGPRGGPALFGLVTFGQSGDCCTDSGTMNIFDRKINFDALLKFSHITPS
TQQHLKKVYASFALCMFVAAAGAYVHMVTHFIQAGLLSALGSLILMIWLMATPHSHETEQKRLGLLAGFAFLTGVGLGPA
LEFCIAVNPSILPTAFMGTAMIFTCFTLSALYARRRSYLFLGGILMSALSLLLLSSLGNVFFGSIWLFQANLYVGLVVMC
GFVLFDTQLIIEKAEHGDQDYIWHCIDLFLDFITVFRKLMMILAMNEKDKKKEKK*

Gene Symbol:TMBIM6
Accession:XM_024449174
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004092594 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TMBIM6 CLINVAR
OMIM 600748 CLINVAR