rs115072194 Rat Genome Database

rs115072194 Rat Genome Database

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Variant: rs115072194 - Homo sapiens

RGD ID:

152066175

RS ID:

rs115072194

ClinVar ID:

CV1583633

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

NEFH

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	22	29,885,368
GRCh38	22	29,489,379

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_021076.4:c.1739C>T NG_008404.1:g.14188C>T NC_000022.11:g.29489379C>T NC_000022.10:g.29885368C>T More...	10/11/2023	missense variant	benign\|likely benign\|uncertain significance	NEFH-related condition; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1583633	Human	amyotrophic lateral sclerosis type 1		IAGP		8554872	ClinVar Annotator: match by term: NEFH-related condition	ClinVar	PMID:25741868\|PMID:28492532
CV1583633	Human	Charcot-Marie-Tooth disease axonal type 2CC		IAGP		8554872	ClinVar Annotator: match by term: NEFH-related condition	ClinVar	PMID:25741868\|PMID:28492532
CV1583633	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868\|PMID:28492532

Gene Symbol:	NEFH
Accession:	NM_021076
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	580

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMSFGGADALLGAPFAPLHGGGSLHYALARKGGAGGTRSAAGSSSGFHSWTRTSVSSVSASPSRFRGAGAASSTDSLDTL SNGPEGCMVAVATSRSEKEQLQALNDRFAGYIDKVRQLEAHNRSLEGEAAALRQQQAGRSAMGELYEREVREMRGAVLRL GAARGQLRLEQEHLLEDIAHVRQRLDDEARQREEAEAAARALARFAQEAEAARVDLQKKAQALQEECGYLRRHHQEEVGE LLGQIQGSGAAQAQMQAETRDALKCDVTSALREIRAQLEGHAVQSTLQSEEWFRVRLDRLSEAAKVNTDAMRSAQEEITE YRRQLQARTTELEALKSTKDSLERQRSELEDRHQADIASYQEAIQQLDAELRNTKWEMAAQLREYQDLLNVKMALDIEIA AYRKLLEGEECRIGFGPIPFSLPEGLPKIPSVSTHIKVKSEEKIKVVEKSEKETVIVEEQTEETQVTEEVTEEEEKEAKE EEGKEEEGGEEEEAEGGEEETKSPPAEEAASPEKEAKSPVKEEAKSPAEAKSPEKEEAKSPAEVKSPEKAKSPAKEEAKS PPEAKSPEKEEAKSPAEVKFPEKAKSPAKEEAKSPAEAKSPEKAKSPVKEEAKSPAEAKSPVKEEAKSPAEVKSPEKAKS PTKEEAKSPEKAKSPEKEEAKSPEKAKSPVKAEAKSPEKAKSPVKAEAKSPEKAKSPVKEEAKSPEKAKSPVKEEAKSPE KAKSPVKEEAKTPEKAKSPVKEEAKSPEKAKSPEKAKTLDVKSPEAKTPAKEEARSPADKFPEKAKSPVKEEVKSPEKAK SPLKEDAKAPEKEIPKKEEVKSPVKEEEKPQEVKVKEPPKKAEEEKAPATPKTEEKKDSKKEEAPKKEAPKPKVEEKKEP AVEKPKESKVEAKKEEAEDKKKVPTPEKEAPAKVEVKEDAKPKEKTEVAKKEPDDAKAKEPSKPAEKKEAAPEKKDTKEE KAKKPEEKPKTEAKAKEDDKTLSKEPSKPKAEKAEKSSSTDQKDSKPPEKATEDKAAKGK*

Gene Symbol:	NEFH
Accession:	XM_011530200
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002110821	CLINVAR
	RCV002400338	CLINVAR
	RCV003418388	CLINVAR
dbSNP (RS)	rs115072194	CLINVAR
MedGen	C0950123	CLINVAR
	C3661900	CLINVAR
NCBI Gene	NEFH	CLINVAR
OMIM	162230	CLINVAR