RGD:407475823 Rat Genome Database

RGD:407475823 Rat Genome Database

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Variant: RGD:407475823 - Homo sapiens

RGD ID:

407475823

ClinVar ID:

CV3415645

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	X	11,316,690
GRCh38	X	11,298,570

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_182681.1:c.119C>T NM_001142.2:c.167C>T NM_182680.1:c.209C>T NM_001287242.2:c.49-43863G>A More...	04/16/2024	intron variant	pathogenic	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)
CV3415645	Human	amelogenesis imperfecta type 1E		IAGP		8554872	ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E	ClinVar

Gene Symbol:	AMELX
Accession:	NM_182680
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	70

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGTWILFACLLGAAFAMPLPPHPGHPGYINFSYENSHSQAINVDRTALVLTPLKWYQSIRPPYPSYGYELMGGWLHHQII PVLSQQHPPTHTLQPHHHIPVVPAQQPVIPQQPMMPVPGQHSMTPIQHHQPNLPPPAQQPYQPQPVQPQPHQPMQPQPPV HPMQPLPPQPPLPPMFPMQPLPPMLPDLTLEAWPSTDKTKREEVD*

Gene Symbol:	AMELX
Accession:	NM_182681
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	40

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGTWILFACLLGAAFAMPVLTPLKWYQSIRPPYPSYGYELMGGWLHHQIIPVLSQQHPPTHTLQPHHHIPVVPAQQPVIP QQPMMPVPGQHSMTPIQHHQPNLPPPAQQPYQPQPVQPQPHQPMQPQPPVHPMQPLPPQPPLPPMFPMQPLPPMLPDLTL EAWPSTDKTKREEVD*

Gene Symbol:	AMELX
Accession:	NM_001142
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	56

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGTWILFACLLGAAFAMPLPPHPGHPGYINFSYEVLTPLKWYQSIRPPYPSYGYELMGGWLHHQIIPVLSQQHPPTHTLQ PHHHIPVVPAQQPVIPQQPMMPVPGQHSMTPIQHHQPNLPPPAQQPYQPQPVQPQPHQPMQPQPPVHPMQPLPPQPPLPP MFPMQPLPPMLPDLTLEAWPSTDKTKREEVD*

Gene Symbol:	AMELX
Accession:	XM_017029404
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	56

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGTWILFACLLGAAFAMPLPPHPGHPGYINFSYEVLTPLKWYQSIRPPYPSYGYELMGGWLHHQIIPVLSQQHPPTHTLQ PHHHIPVVPAQQPVIPQQPMMPVPGQHSMTPIQHHQPNLPPPAQQPYQPQPVQPQPHQPMQPQPPVHPMQPLPPQPPLPP MFPMQPLPPMLPDLTLEAWPSTDKTKREEVMLLWDYYPMESFTSSWLGSYLASSSRHETQSLKYTHRIFLPLQGSYTSAI AAAPGSSEPPYSPRRAPVQCGNREGDRRQGGTLLKVLEEPARQSPCLECTTRGSRRERALGHCDPLSQTPWGALSSESPP QAQKAESPQAPTRKKSVKVKKLKS*

Gene Symbol:	ARHGAP6
Accession:	NM_013423
Location:	INTRON

Gene Symbol:	ARHGAP6
Accession:	NM_006125
Location:	INTRON

Gene Symbol:	ARHGAP6
Accession:	NM_013427
Location:	INTRON

Gene Symbol:	ARHGAP6
Accession:	NM_001287242
Location:	INTRON

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004598528	CLINVAR
MedGen	C1845053	CLINVAR
NCBI Gene	AMELX	CLINVAR
	ARHGAP6	CLINVAR
OMIM	300118	CLINVAR
	300391	CLINVAR
	301200	CLINVAR