RGD:405790071 Rat Genome Database

RGD:405790071 Rat Genome Database

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Variant: RGD:405790071 - Homo sapiens

RGD ID:

405790071

ClinVar ID:

CV3330617

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

MYT1

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	20	62,837,010
GRCh38	20	64,205,657

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_004535.3:c.254A>G NC_000020.11:g.64205657A>G NC_000020.10:g.62837010A>G NM_004535.2:c.254A>G NP_004526.1:p.Glu85Gly More...	12/31/2023	missense variant	uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV3330617	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar

Gene Symbol:	MYT1
Accession:	NM_004535
Location:	EXON
Amino Acid Prediction:	E to G (nonsynonymous)
Amino Acid Position:	85

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLENEDKRARTRSKALRGPPETTAADLSCPTPGCTGSGHVRGKYSRHRSLQSCPLAKKRKLEGAEAEHLVSKRKSHPLK LALDGGYGVDSDGSEDTEVKDASVSDESEGTLEGAEAETSGQDEIHRPETAEGRSPVKSHFGSNPIGSATASSKGSYSSY QGIIATSLLNLGQIAEETLVEEDLGQAAKPGPGIVHLLQEAAEGAASEEGEKGLFIQPEDAEEVVEVTTERSQDLCPQSL EDAASEESSKQKGILSHEEEDEEEEEEEEEEEEDEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEEAAPDVIFQEDTSHT SAQKAPELRGPESPSPKPEYSVIVEVRSDDDKDEDTHSRKSTVTDESEMQDMMTRGNLGLLEQAIALKAEQVRTVCEPGC PPAEQSQLGLGEPGKAAKPLDTVRKSYYSKDPSRAEKREIKCPTPGCDGTGHVTGLYPHHRSLSGCPHKDRIPPEILAMH ENVLKCPTPGCTGQGHVNSNRNTHRSLSGCPIAAAEKLAKSHEKQQPQTGDPSKSSSNSDRILRPMCFVKQLEVPPYGSY RPNVAPATPRANLAKELEKFSKVTFDYASFDAQVFGKRMLAPKIQTSETSPKAFQCFDYSQDAEAAHMAATAILNLSTRC WEMPENLSTKPQDLPSKSVDIEVDENGTLDLSMHKHRKRENAFPSSSSCSSSPGVKSPDASQRHSSTSAPSSSMTSPQSS QASRQDEWDRPLDYTKPSRLREEEPEESEPAAHSFASSEADDQEVSEENFEERKYPGEVTLTNFKLKFLSKDIKKELLTC PTPGCDGSGHITGNYASHRSLSGCPLADKSLRNLMAAHSADLKCPTPGCDGSGHITGNYASHRSLSGCPRAKKSGVKVAP TKDDKEDPELMKCPVPGCVGLGHISGKYASHRSASGCPLAARRQKEGSLNGSSFSWKSLKNEGPTCPTPGCDGSGHANGS FLTHRSLSGCPRATFAGKKGKLSGDEVLSPKFKTSDVLENDEEIKQLNQEIRDLNESNSEMEAAMVQLQSQISSMEKNLK NIEEENKLIEEQNEALFLELSGLSQALIQSLANIRLPHMEPICEQNFDAYVSTLTDMYSNQDPENKDLLESIKQAVRGIQ V*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004460457	CLINVAR
MedGen	C0950123	CLINVAR
NCBI Gene	MYT1	CLINVAR
OMIM	600379	CLINVAR