rs869025438 Rat Genome Database

rs869025438 Rat Genome Database

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Variant: rs869025438 - Homo sapiens

RGD ID:

11040279

RS ID:

rs869025438

ClinVar ID:

CV224435

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ILK TAF10

Reference Nucleotide:

T

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	11	6,630,748
GRCh38	11	6,609,517

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_444:g.10785T>A NG_029702.1:g.10785T>A NC_000011.10:g.6609517T>A NC_000011.9:g.6630748T>A More...	09/29/2015	3 prime utr variant\|missense variant	uncertain significance	Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV224435	Human	dilated cardiomyopathy		IAGP		8554872	ClinVar Annotator: match by term: Primary dilated cardiomyopathy	ClinVar	PMID:28492532
CV224435	Human	familial hypertrophic cardiomyopathy		IAGP		8554872	ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	ClinVar	PMID:28492532

Gene Symbol:	TAF10
Accession:	NM_006284
Location:	3UTRS;EXON

Gene Symbol:	ILK
Accession:	NM_004517
Location:	EXON
Amino Acid Prediction:	F to F (synonymous)
Amino Acid Position:	245

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDIFTQCREGNAVAVRLWLDNTENDLNQGDDHGFSPLHWACREGRSAVVEMLIMRGARINVMNRGDDTPLHLAASHGHR DIVQKLLQYKADINAVNEHGNVPLHYACFWGQDQVAEDLVANGALVSICNKYGEMPVDKAKAPLRELLRERAEKMGQNLN RIPYKDTFWKGTTRTRPRNGTLNKHSGIDFKQLNFLTKLNENHSGELWKGRWQGNDIVVKVLKVRDWSTRKSRDFNEECP RLRIFSHPNVLPVLGACQSPPAPHPTLITHWMPYGSLYNVLHEGTNFVVDQSQAVKFALDMARGMAFLHTLEPLIPRHAL NSRSVMIDEDMTARISMADVKFSFQCPGRMYAPAWVAPEALQKKPEDTNRRSADMWSFAVLLWELVTREVPFADLSNMEI GMKVALEGLRPTIPPGISPHVCKLMKICMNEDPAKRPKFDMIVPILEKMQDK*

Gene Symbol:	ILK
Accession:	NM_001014794
Location:	EXON
Amino Acid Prediction:	F to F (synonymous)
Amino Acid Position:	245

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDIFTQCREGNAVAVRLWLDNTENDLNQGDDHGFSPLHWACREGRSAVVEMLIMRGARINVMNRGDDTPLHLAASHGHR DIVQKLLQYKADINAVNEHGNVPLHYACFWGQDQVAEDLVANGALVSICNKYGEMPVDKAKAPLRELLRERAEKMGQNLN RIPYKDTFWKGTTRTRPRNGTLNKHSGIDFKQLNFLTKLNENHSGELWKGRWQGNDIVVKVLKVRDWSTRKSRDFNEECP RLRIFSHPNVLPVLGACQSPPAPHPTLITHWMPYGSLYNVLHEGTNFVVDQSQAVKFALDMARGMAFLHTLEPLIPRHAL NSRSVMIDEDMTARISMADVKFSFQCPGRMYAPAWVAPEALQKKPEDTNRRSADMWSFAVLLWELVTREVPFADLSNMEI GMKVALEGLRPTIPPGISPHVCKLMKICMNEDPAKRPKFDMIVPILEKMQDK*

Gene Symbol:	ILK
Accession:	NM_001014795
Location:	EXON
Amino Acid Prediction:	F to F (synonymous)
Amino Acid Position:	245

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDIFTQCREGNAVAVRLWLDNTENDLNQGDDHGFSPLHWACREGRSAVVEMLIMRGARINVMNRGDDTPLHLAASHGHR DIVQKLLQYKADINAVNEHGNVPLHYACFWGQDQVAEDLVANGALVSICNKYGEMPVDKAKAPLRELLRERAEKMGQNLN RIPYKDTFWKGTTRTRPRNGTLNKHSGIDFKQLNFLTKLNENHSGELWKGRWQGNDIVVKVLKVRDWSTRKSRDFNEECP RLRIFSHPNVLPVLGACQSPPAPHPTLITHWMPYGSLYNVLHEGTNFVVDQSQAVKFALDMARGMAFLHTLEPLIPRHAL NSRSVMIDEDMTARISMADVKFSFQCPGRMYAPAWVAPEALQKKPEDTNRRSADMWSFAVLLWELVTREVPFADLSNMEI GMKVALEGLRPTIPPGISPHVCKLMKICMNEDPAKRPKFDMIVPILEKMQDK*

Gene Symbol:	ILK
Accession:	NM_001278441
Location:	EXON
Amino Acid Prediction:	F to F (synonymous)
Amino Acid Position:	184

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDIFTQCREGNAVAVRLWLDNTENDLNQGDDHGFSPLHWACREGRSAVVEMLIMRGARINVMNRGDDTPLHLAASHGHR DIVQKLLQYKADINAVNEHGNVPLHYACFWGQDQVAESGQRRWARISTVFHTRTHSGRGPPALGPLWKGRWQGNDIVVKV LKVRDWSTRKSRDFNEECPRLRIFSHPNVLPVLGACQSPPAPHPTLITHWMPYGSLYNVLHEGTNFVVDQSQAVKFALDM ARGMAFLHTLEPLIPRHALNSRSVMIDEDMTARISMADVKFSFQCPGRMYAPAWVAPEALQKKPEDTNRRSADMWSFAVL LWELVTREVPFADLSNMEIGMKVALEGLRPTIPPGISPHVCKLMKICMNEDPAKRPKFDMIVPILEKMQDK*

Gene Symbol:	ILK
Accession:	NM_001278442
Location:	EXON
Amino Acid Prediction:	F to F (synonymous)
Amino Acid Position:	111

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPVDKAKAPLRELLRERAEKMGQNLNRIPYKDTFWKGTTRTRPRNGTLNKHSGIDFKQLNFLTKLNENHSGELWKGRWQG NDIVVKVLKVRDWSTRKSRDFNEECPRLRIFSHPNVLPVLGACQSPPAPHPTLITHWMPYGSLYNVLHEGTNFVVDQSQA VKFALDMARGMAFLHTLEPLIPRHALNSRSVMIDEDMTARISMADVKFSFQCPGRMYAPAWVAPEALQKKPEDTNRRSAD MWSFAVLLWELVTREVPFADLSNMEIGMKVALEGLRPTIPPGISPHVCKLMKICMNEDPAKRPKFDMIVPILEKMQDK*

Gene Symbol:	ILK
Accession:	XM_005252904
Location:	EXON
Amino Acid Prediction:	F to F (synonymous)
Amino Acid Position:	245

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDIFTQCREGNAVAVRLWLDNTENDLNQGDDHGFSPLHWACREGRSAVVEMLIMRGARINVMNRGDDTPLHLAASHGHR DIVQKLLQYKADINAVNEHGNVPLHYACFWGQDQVAEDLVANGALVSICNKYGEMPVDKAKAPLRELLRERAEKMGQNLN RIPYKDTFWKGTTRTRPRNGTLNKHSGIDFKQLNFLTKLNENHSGELWKGRWQGNDIVVKVLKVRDWSTRKSRDFNEECP RLRIFSHPNVLPVLGACQSPPAPHPTLITHWMPYGSLYNVLHEGTNFVVDQSQAVKFALDMARGMAFLHTLEPLIPRHAL NSRSVMIDEDMTARISMADVKFSFQCPGRMYAPAWVAPEALQKKPEDTNRRSADMWSFAVLLWELVTREVPFADLSNMEI GMKVALEGLRPTIPPGISPHVCKLMKICMNEDPAKRPKFDMIVPILEKMQDK*

Gene Symbol:	ILK
Accession:	XM_011520065
Location:	EXON
Amino Acid Prediction:	F to F (synonymous)
Amino Acid Position:	245

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDIFTQCREGNAVAVRLWLDNTENDLNQGDDHGFSPLHWACREGRSAVVEMLIMRGARINVMNRGDDTPLHLAASHGHR DIVQKLLQYKADINAVNEHGNVPLHYACFWGQDQVAEDLVANGALVSICNKYGEMPVDKAKAPLRELLRERAEKMGQNLN RIPYKDTFWKGTTRTRPRNGTLNKHSGIDFKQLNFLTKLNENHSGELWKGRWQGNDIVVKVLKVRDWSTRKSRDFNEECP RLRIFSHPNVLPVLGACQSPPAPHPTLITHWMPYGSLYNVLHEGTNFVVDQSQAVKFALDMARGMAFLHTLEPLIPRHAL NSRSVMIDEDMTARISMADVKFSFQCPGRMYAPAWVAPEALQKKPEDTNRRSADMWSFAVLLWELVTREVPFADLSNMEI GMKVALEGLRPTIPPGISPHVCKLMKICMNEDPAKRPKFDMIVPILEKMQDK*

Gene Symbol:	ILK
Accession:	XM_024448499
Location:	EXON
Amino Acid Prediction:	F to F (synonymous)
Amino Acid Position:	194

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLIMRGARINVMNRGDDTPLHLAASHGHRDIVQKLLQYKADINAVNEHGNVPLHYACFWGQDQVAEDLVANGALVSICNK YGEMPVDKAKAPLRELLRERAEKMGQNLNRIPYKDTFWKGTTRTRPRNGTLNKHSGIDFKQLNFLTKLNENHSGELWKGR WQGNDIVVKVLKVRDWSTRKSRDFNEECPRLRIFSHPNVLPVLGACQSPPAPHPTLITHWMPYGSLYNVLHEGTNFVVDQ SQAVKFALDMARGMAFLHTLEPLIPRHALNSRSVMIDEDMTARISMADVKFSFQCPGRMYAPAWVAPEALQKKPEDTNRR SADMWSFAVLLWELVTREVPFADLSNMEIGMKVALEGLRPTIPPGISPHVCKLMKICMNEDPAKRPKFDMIVPILEKMQD K*

Gene Symbol:	ILK
Accession:	XM_024448498
Location:	EXON
Amino Acid Prediction:	F to F (synonymous)
Amino Acid Position:	194

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLIMRGARINVMNRGDDTPLHLAASHGHRDIVQKLLQYKADINAVNEHGNVPLHYACFWGQDQVAEDLVANGALVSICNK YGEMPVDKAKAPLRELLRERAEKMGQNLNRIPYKDTFWKGTTRTRPRNGTLNKHSGIDFKQLNFLTKLNENHSGELWKGR WQGNDIVVKVLKVRDWSTRKSRDFNEECPRLRIFSHPNVLPVLGACQSPPAPHPTLITHWMPYGSLYNVLHEGTNFVVDQ SQAVKFALDMARGMAFLHTLEPLIPRHALNSRSVMIDEDMTARISMADVKFSFQCPGRMYAPAWVAPEALQKKPEDTNRR SADMWSFAVLLWELVTREVPFADLSNMEIGMKVALEGLRPTIPPGISPHVCKLMKICMNEDPAKRPKFDMIVPILEKMQD K*

Gene Symbol:	ILK
Accession:	XM_047426885
Location:	EXON
Amino Acid Prediction:	F to F (synonymous)
Amino Acid Position:	111

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPVDKAKAPLRELLRERAEKMGQNLNRIPYKDTFWKGTTRTRPRNGTLNKHSGIDFKQLNFLTKLNENHSGELWKGRWQG NDIVVKVLKVRDWSTRKSRDFNEECPRLRIFSHPNVLPVLGACQSPPAPHPTLITHWMPYGSLYNVLHEGTNFVVDQSQA VKFALDMARGMAFLHTLEPLIPRHALNSRSVMIDEDMTARISMADVKFSFQCPGRMYAPAWVAPEALQKKPEDTNRRSAD MWSFAVLLWELVTREVPFADLSNMEIGMKVALEGLRPTIPPGISPHVCKLMKICMNEDPAKRPKFDMIVPILEKMQDK*

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000208000	CLINVAR
	RCV005055735	CLINVAR
dbSNP (RS)	rs869025438	CLINVAR
MedGen	C0007193	CLINVAR
	C0949658	CLINVAR
NCBI Gene	ILK	CLINVAR
	TAF10	CLINVAR
OMIM	192600	CLINVAR
	600475	CLINVAR
	602366	CLINVAR
SNOMED CT	195021004	CLINVAR
	83978005	CLINVAR