RGD:156066430 Rat Genome Database

RGD:156066430 Rat Genome Database

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Variant: RGD:156066430 - Homo sapiens

RGD ID:

156066430

ClinVar ID:

CV2346797

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	7	72,754,687
GRCh38	7	73,340,685

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001281304.2:c.546C>A NM_001135211.3:c.621C>A NM_003602.5:c.636C>A NG_023242.2:g.17530C>A More...	11/21/2022	missense variant	uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2346797	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar

Gene Symbol:	FKBP6
Accession:	NM_001362789
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	167

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSASSWPQNGMPPSSLYERLSQRMLDISGDRGVLKDVIREGAGDLVAPDASVLVKYSGYLEHMDRPFDSNYFRKTPRLMK LGEDITLWGMELGLLSMRRGELARFLFKPNYAYGTLGCPPLIPPNTTVLFEIELLDFLDCAESDKFCALSAALLLLRRRS APPEEQQLVEAAKLPVLLNLSFTYLKLDRPTIALCYGEQALIIDQKNAKALFRCGQACLLLTEYQKARDFLVRAQKEQPF NHDINNELKKLASCYRDYVDKEKEMWHRMFAPCGDGSTAGES*

Gene Symbol:	FKBP6
Accession:	XM_047420986
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	212

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGGSALNQGVLEGDDAPGQSLYERLSQRMLDISGDRGVLKDVIREGAGDLVAPDASVLVKYSGYLEHMDRPFDSNYFRKT PRLMKLGEDITLWGMELGLLSMRRGELARFLFKPNYAYGTLGCPPLIPPNTTVLFEIELLDFLDCAESDKFCALSAEQQD QFPLQKVLKVAATEREFGNYLFRQNRFYDAKVRYKRALLLLRRRSAPPEEQQLVEAAKLPVLLNLSFTYLKLDRPTIALC YGEQALIIDQKNAKALFRCGQFSPWDRLVFS*

Gene Symbol:	FKBP6
Accession:	NM_003602
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	212

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGGSALNQGVLEGDDAPGQSLYERLSQRMLDISGDRGVLKDVIREGAGDLVAPDASVLVKYSGYLEHMDRPFDSNYFRKT PRLMKLGEDITLWGMELGLLSMRRGELARFLFKPNYAYGTLGCPPLIPPNTTVLFEIELLDFLDCAESDKFCALSAEQQD QFPLQKVLKVAATEREFGNYLFRQNRFYDAKVRYKRALLLLRRRSAPPEEQQLVEAAKLPVLLNLSFTYLKLDRPTIALC YGEQALIIDQKNAKALFRCGQACLLLTEYQKARDFLVRAQKEQPFNHDINNELKKLASCYRDYVDKEKEMWHRMFAPCGD GSTAGES*

Gene Symbol:	FKBP6
Accession:	XM_047420984
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	207

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGGSALNQGVLEGDDAPGQSLYERLSQRMLDISGDRGVLKDVIREGAGDLVAPDASVLVKYSGYLEHMDRPFDSNYFRKT PRLMKLGEDITLWGMELGLLSMRRGELARFLFKPNYAYGTLGCPPLIPPNTTVLFEIELLDFLDCAESDKFCALSAEQQD QFPLQKVLKVAATEREFGNYLFRQNRFYDAKALLLLRRRSAPPEEQQLVEAAKLPVLLNLSFTYLKLDRPTIALCYGEQA LIIDQKNAKALFRCGQACLLLTEYQKARDFLVRAQKEQPFNHDINNELKKLASCYRDYVDKEKEMWHRMFAPCGDGSTAG ES*

Gene Symbol:	FKBP6
Accession:	NM_001135211
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	207

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSASSWPQNGMPPSSLYERLSQRMLDISGDRGVLKDVIREGAGDLVAPDASVLVKYSGYLEHMDRPFDSNYFRKTPRLMK LGEDITLWGMELGLLSMRRGELARFLFKPNYAYGTLGCPPLIPPNTTVLFEIELLDFLDCAESDKFCALSAEQQDQFPLQ KVLKVAATEREFGNYLFRQNRFYDAKVRYKRALLLLRRRSAPPEEQQLVEAAKLPVLLNLSFTYLKLDRPTIALCYGEQA LIIDQKNAKALFRCGQACLLLTEYQKARDFLVRAQKEQPFNHDINNELKKLASCYRDYVDKEKEMWHRMFAPCGDGSTAG ES*

Gene Symbol:	FKBP6
Accession:	NM_001281304
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	182

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGGSALNQGVLEGDDAPGQSLYERLSQRMLDISGDRGVLKDVIREGAGDLVAPDASVLDITLWGMELGLLSMRRGELARF LFKPNYAYGTLGCPPLIPPNTTVLFEIELLDFLDCAESDKFCALSAEQQDQFPLQKVLKVAATEREFGNYLFRQNRFYDA KVRYKRALLLLRRRSAPPEEQQLVEAAKLPVLLNLSFTYLKLDRPTIALCYGEQALIIDQKNAKALFRCGQACLLLTEYQ KARDFLVRAQKEQPFNHDINNELKKLASCYRDYVDKEKEMWHRMFAPCGDGSTAGES*

Gene Symbol:	FKBP6
Accession:	XM_047420985
Location:	EXON
Amino Acid Prediction:	H to Q (nonsynonymous)
Amino Acid Position:	172

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGGSALNQGVLEGDDAPGQSLYERLSQRMLDISGDRGVLKDVIREGAGDLVAPDASVLVKYSGYLEHMDRPFDSNYFRKT PRLMKLGEDITLWGMELGLLSMRRGELARFLFKPNYAYGTLGCPPLIPPNTTVLFEIELLDFLDCAESDKFCALSAALLL LRRRSAPPEEQQLVEAAKLPVLLNLSFTYLKLDRPTIALCYGEQALIIDQKNAKALFRCGQACLLLTEYQKARDFLVRAQ KEQPFNHDINNELKKLASCYRDYVDKEKEMWHRMFAPCGDGSTAGES*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV003000487	CLINVAR
MedGen	C0950123	CLINVAR
NCBI Gene	FKBP6	CLINVAR
OMIM	604839	CLINVAR