rs137868995 Rat Genome Database

rs137868995 Rat Genome Database

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Variant: rs137868995 - Homo sapiens

RGD ID:

13207923

RS ID:

rs137868995

ClinVar ID:

CV424384

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

MYMK

Reference Nucleotide:

G

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	9	136,384,124
GRCh38	9	133,519,002

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View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NC_000009.12:g.133519002G>T NC_000009.11:g.136384124G>T NP_001073952.1:p.Pro91Thr NM_001080483.2:c.271C>A p.Pro91Thr NM_001080483.3:c.271C>A More...	12/18/2023	missense variant	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|no classifications from unflagged records	neonatal	<1 / 1 000 000	Carey-Fineman-Ziter syndrome; CFZ syndrome; Congenital nonprogressive myopathy with Moebius and Robin sequence; Moebius sequence, Robin complex, and hypotonia; MYMK-related condition; MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV424384	Human	Carey-Fineman-Ziter syndrome		IAGP		8554872	ClinVar Annotator: match by term: MYOPATHY more ...	ClinVar	PMID:25741868 more ...
CV424384	Human	Carey-Fineman-Ziter Syndrome 1		IAGP		8554872	ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1	ClinVar	PMID:25741868 more ...

Gene Symbol:	MYMK
Accession:	NM_001080483
Location:	EXON
Amino Acid Prediction:	P to T (nonsynonymous)
Amino Acid Position:	91

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGTLVAKLLLPTLSSLAFLPTVSIAAKRRFHMEAMVYLFTLFFVALHHACNGPGLSVLCFMRHDILEYFSVYGTALSMWV SLMALADFDETKRSTFVMFGVLTIAVRIYHDRWGYGVYSGPIGTAILIIAAKWLQKMKEKKGLYPDKSVYTQQIGPGLCF GALALMLRFFFEDWDYTYVHSFYHCALAMSFVLLLPKVNKKAGSPGTPAKLDCSTLCCACV*

ClinVar GRCh37	ClinVar GRCh38

PMID:7131178	PMID:25741868	PMID:28681861	PMID:29560417	PMID:30065953	PMID:32528171	PMID:32573669

Database	Acc Id	Source(s)
ClinVar	RCV000495954	CLINVAR
	RCV001575718	CLINVAR
	RCV003147484	CLINVAR
	RCV003424047	CLINVAR
dbSNP (RS)	rs137868995	CLINVAR
MedGen	C1850746	CLINVAR
	C3661900	CLINVAR
	C5676876	CLINVAR
NCBI Gene	MYMK	CLINVAR
OMIM	254940	CLINVAR
	615345	CLINVAR
OMIM Allele	615345.0001	CLINVAR
SNOMED CT	429753001	CLINVAR