RGD:15168781 Rat Genome Database

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Variant: RGD:15168781 -  Homo sapiens

RGD ID: 15168781
RS ID: rs76933768
ClinVar ID: CV717091
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FERMT1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 6,064,778
GRCh38 20 6,084,131
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016213.1:g.44414G>A
NC_000020.11:g.6084131C>T
NC_000020.10:g.6064778C>T
NP_060141.3:p.Val543Met
More... 		01/09/2019 missense variant likely benign Bullous acrokeratotic poikiloderma of kindler and weary; Congenital bullous poikiloderma; Hereditary acrokeratotic poikiloderma of Weary; Kindler's syndrome; none provided; Poikiloderma of Kindler; Poikiloderma, congenital, with bullae, weary type; Poikiloderma, hereditary acrokeratotic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FERMT1
Accession:XM_024451935
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 543
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSSTDFTFASWELVVRVDHPNEEQQKDVTLRVSGDLHVGGVMLKLVEQINISQDWSDFALWWEQKHCWLLKTHWTLDKY
GVQADAKLLFTPQHKMLRLRLPNLKMVRLRVSFSAVVFKAVSDICKILNIRRSEELSLLKPSGDYFKKKKKKDKNNKEPI
IEDILNLESSPTASGSSVSPGLYSKTMTPIYDPINGTPASSTMTWFSDSPLTEQNCSILAFSQPPQSPEALADMYQPRSL
VDKAKLNAGWLDSSRSLMEQGIQEDEQLLLRFKYYSFFDLNPKYDAVRINQLYEQARWAILLEEIDCTEEEMLIFAALQY
HISKLSLSAETQDFAGESEVDEIEAALSNLEVTLEGGKADSLLEDITDIPKLADNLKLFRPKKLLPKAFKQYWFIFKDTS
IAYFKNKELEQGEPLEKLNLRGCEVVPDVNVAGRKFGIKLLIPVADGMNEMYLRCDHENQYAQWMAACMLASKGKTMADS
SYQPEVLNILSFLRMKNRNSASQVASSLENMDMNPECFVSPRCAKRHKSKQLAARILEAHQNMAQMPLVEAKLRFIQAWQ
SLPEFGLTYYLVRFKGSKKDDILGVSYNRLIKIDAATGIPVTTWRFTNIKQWNVNWETRQVVIEFDQNVFTAFTCLSADC
KIVHEYIGGYIFLSTRSKDQNETLDEDLFHKLTGGQD*

Gene Symbol:FERMT1
Accession:XM_047440260
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 448
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRLRLPNLKMVRLRVSFSAVVFKAVSDICKILNIRRSEELSLLKPSGDYFKKKKKKDKNNKEPIIEDILNLESSPTASG
SSVSPGLYSKTMTPIYDPINGTPASSTMTWFSDSPLTEQNCSILAFSQPPQSPEALADMYQPRSLVDKAKLNAGWLDSSR
SLMEQGIQEDEQLLLRFKYYSFFDLNPKYDAVRINQLYEQARWAILLEEIDCTEEEMLIFAALQYHISKLSLSAETQDFA
GESEVDEIEAALSNLEVTLEGGKADSLLEDITDIPKLADNLKLFRPKKLLPKAFKQYWFIFKDTSIAYFKNKELEQGEPL
EKLNLRGCEVVPDVNVAGRKFGIKLLIPVADGMNEMYLRCDHENQYAQWMAACMLASKGKTMADSSYQPEVLNILSFLRM
KNRNSASQVASSLENMDMNPECFVSPRCAKRHKSKQLAARILEAHQNMAQMPLVEAKLRFIQAWQSLPEFGLTYYLVRFK
GSKKDDILGVSYNRLIKIDAATGIPVTTWRFTNIKQWNVNWETRQVVIEFDQNVFTAFTCLSADCKIVHEYIGGYIFLST
RSKDQNETLDEDLFHKLTGGQD*

Gene Symbol:FERMT1
Accession:NM_017671
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 543
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSSTDFTFASWELVVRVDHPNEEQQKDVTLRVSGDLHVGGVMLKLVEQINISQDWSDFALWWEQKHCWLLKTHWTLDKY
GVQADAKLLFTPQHKMLRLRLPNLKMVRLRVSFSAVVFKAVSDICKILNIRRSEELSLLKPSGDYFKKKKKKDKNNKEPI
IEDILNLESSPTASGSSVSPGLYSKTMTPIYDPINGTPASSTMTWFSDSPLTEQNCSILAFSQPPQSPEALADMYQPRSL
VDKAKLNAGWLDSSRSLMEQGIQEDEQLLLRFKYYSFFDLNPKYDAVRINQLYEQARWAILLEEIDCTEEEMLIFAALQY
HISKLSLSAETQDFAGESEVDEIEAALSNLEVTLEGGKADSLLEDITDIPKLADNLKLFRPKKLLPKAFKQYWFIFKDTS
IAYFKNKELEQGEPLEKLNLRGCEVVPDVNVAGRKFGIKLLIPVADGMNEMYLRCDHENQYAQWMAACMLASKGKTMADS
SYQPEVLNILSFLRMKNRNSASQVASSLENMDMNPECFVSPRCAKRHKSKQLAARILEAHQNMAQMPLVEAKLRFIQAWQ
SLPEFGLTYYLVRFKGSKKDDILGVSYNRLIKIDAATGIPVTTWRFTNIKQWNVNWETRQVVIEFDQNVFTAFTCLSADC
KIVHEYIGGYIFLSTRSKDQNETLDEDLFHKLTGGQD*

Gene Symbol:FERMT1
Accession:XM_047440259
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 543
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSSTDFTFASWELVVRVDHPNEEQQKDVTLRVSGDLHVGGVMLKLVEQINISQDWSDFALWWEQKHCWLLKTHWTLDKY
GVQADAKLLFTPQHKMLRLRLPNLKMVRLRVSFSAVVFKAVSDICKILNIRRSEELSLLKPSGDYFKKKKKKDKNNKEPI
IEDILNLESSPTASGSSVSPGLYSKTMTPIYDPINGTPASSTMTWFSDSPLTEQNCSILAFSQPPQSPEALADMYQPRSL
VDKAKLNAGWLDSSRSLMEQGIQEDEQLLLRFKYYSFFDLNPKYDAVRINQLYEQARWAILLEEIDCTEEEMLIFAALQY
HISKLSLSAETQDFAGESEVDEIEAALSNLEVTLEGGKADSLLEDITDIPKLADNLKLFRPKKLLPKAFKQYWFIFKDTS
IAYFKNKELEQGEPLEKLNLRGCEVVPDVNVAGRKFGIKLLIPVADGMNEMYLRCDHENQYAQWMAACMLASKGKTMADS
SYQPEVLNILSFLRMKNRNSASQVASSLENMDMNPECFVSPRCAKRHKSKQLAARILEAHQNMAQMPLVEAKLRFIQAWQ
SLPEFGLTYYLVRFKGSKKDDILGVSYNRLIKIDAATGIPVTTWRFTNIKQWNVNWETRQVVIEFDQNVFTAFTCLSADC
KIVHEYIGGYIFLSTRSKDQNETLDEDLFHKLTGGQD*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28443301   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000971685 CLINVAR
  RCV001138760 CLINVAR
  RCV003960840 CLINVAR
dbSNP (RS) rs76933768 CLINVAR
MedGen C0406557 CLINVAR
  C3661900 CLINVAR
NCBI Gene FERMT1 CLINVAR
OMIM 173650 CLINVAR
  607900 CLINVAR
SNOMED CT 238836000 CLINVAR