rs104894734 Rat Genome Database

rs104894734 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: rs104894734 - Homo sapiens

RGD ID:

8562202

RS ID:

rs104894734

ClinVar ID:

CV26180

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	X	11,317,052
GRCh38	X	11,298,932

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NM_182680.1:c.571G>T NG_012040.1:g.10520G>T NC_000023.11:g.11298932G>T NC_000023.10:g.11317052G>T More...	03/21/2013	intron\|intron variant\|nonsense	pathogenic	neonatal/infancy	1:14,000	Amelogenesis imperfecta X-linked 1; AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH; Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1; Enamel hypoplasia X-linked; ENAMEL HYPOPLASIA, X-LINKED 1

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV26180	Human	amelogenesis imperfecta type 1E		IAGP		8554872	ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA more ...	ClinVar	PMID:11922868 and PMID:7599636

Gene Symbol:	AMELX
Accession:	NM_182680
Location:	EXON
Amino Acid Prediction:	E to * (nonsynonymous)
Amino Acid Position:	191

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGTWILFACLLGAAFAMPLPPHPGHPGYINFSYENSHSQAINVDRTALVLTPLKWYQSIRPPYPSYGYEPMGGWLHHQII PVLSQQHPPTHTLQPHHHIPVVPAQQPVIPQQPMMPVPGQHSMTPIQHHQPNLPPPAQQPYQPQPVQPQPHQPMQPQPPV HPMQPLPPQPPLPPMFPMQPLPPMLPDLTLAWPSTDKTKREEVD

Gene Symbol:	AMELX
Accession:	NM_001142
Location:	EXON
Amino Acid Prediction:	E to * (nonsynonymous)
Amino Acid Position:	177

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGTWILFACLLGAAFAMPLPPHPGHPGYINFSYEVLTPLKWYQSIRPPYPSYGYEPMGGWLHHQIIPVLSQQHPPTHTLQ PHHHIPVVPAQQPVIPQQPMMPVPGQHSMTPIQHHQPNLPPPAQQPYQPQPVQPQPHQPMQPQPPVHPMQPLPPQPPLPP MFPMQPLPPMLPDLTLAWPSTDKTKREEVD

Gene Symbol:	AMELX
Accession:	NM_182681
Location:	EXON
Amino Acid Prediction:	E to * (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGTWILFACLLGAAFAMPVLTPLKWYQSIRPPYPSYGYEPMGGWLHHQIIPVLSQQHPPTHTLQPHHHIPVVPAQQPVIP QQPMMPVPGQHSMTPIQHHQPNLPPPAQQPYQPQPVQPQPHQPMQPQPPVHPMQPLPPQPPLPPMFPMQPLPPMLPDLTL AWPSTDKTKREEVD

Gene Symbol:	AMELX
Accession:	XM_017029404
Location:	EXON
Amino Acid Prediction:	E to * (nonsynonymous)
Amino Acid Position:	177

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGTWILFACLLGAAFAMPLPPHPGHPGYINFSYEVLTPLKWYQSIRPPYPSYGYEPMGGWLHHQIIPVLSQQHPPTHTLQ PHHHIPVVPAQQPVIPQQPMMPVPGQHSMTPIQHHQPNLPPPAQQPYQPQPVQPQPHQPMQPQPPVHPMQPLPPQPPLPP MFPMQPLPPMLPDLTLAWPSTDKTKREEVMLLWDYYPMESFTSSWLGSYLASSSRHETQSLKYTHRIFLPLQGSYTSAI AAAPGSSEPPYSPRRAPVQCGNREGDRRQGGTLLKVLEEPARQSPCLECTTRGSRRERALGHCDPLSQTPWGALSSESPP QAQKAESPQAPTRKKSVKVKKLKS

Gene Symbol:	ARHGAP6
Accession:	NM_013427
Location:	INTRON

Gene Symbol:	ARHGAP6
Accession:	NM_013423
Location:	INTRON

Gene Symbol:	ARHGAP6
Accession:	NM_006125
Location:	INTRON

Gene Symbol:	ARHGAP6
Accession:	NM_001287242
Location:	INTRON

Gene Symbol:	ARHGAP6
Accession:	NR_109776
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

PMID:7599636	PMID:11922868

Database	Acc Id	Source(s)
ClinVar	RCV000011891	CLINVAR
dbSNP (RS)	rs104894734	CLINVAR
MedGen	C1845053	CLINVAR
NCBI Gene	AMELX	CLINVAR
	ARHGAP6	CLINVAR
OMIM	300118	CLINVAR
	300391	CLINVAR
	301200	CLINVAR
OMIM Allele	300391.0006	CLINVAR