rs771268967 Rat Genome Database

rs771268967 Rat Genome Database

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Variant: rs771268967 - Homo sapiens

RGD ID:

153346430

RS ID:

rs771268967

ClinVar ID:

CV1691710

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

MAF

Reference Nucleotide:

G

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	16	79,633,388
GRCh38	16	79,599,491

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NP_001026974.1:p.Leu138Met NP_005351.2:p.Leu138Met NM_001031804.3:c.412C>A NC_000016.9:g.79633388G>T More...	08/18/2022	missense variant	likely benign\|uncertain significance	Ayme-Gripp syndrome; CATARACT 21, CERULEAN, WITH OR WITHOUT MICROCORNEA; CATARACT 21, MULTIPLE TYPES, WITH MICROCORNEA; CATARACT 21, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA; Cataract, congenital, cerulean type, 4; Cataract, pulverulent, juvenile-onset; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1691710	Human	cataract 21 multiple types		IAGP		8554872	ClinVar Annotator: match by term: Cataract 21 multiple types	ClinVar	PMID:25064449\|PMID:25741868\|PMID:25865493\|PMID:28492532\|PMID:30659945

Gene Symbol:	MAF
Accession:	NM_005360
Location:	EXON
Amino Acid Prediction:	L to M (nonsynonymous)
Amino Acid Position:	138

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPMSTPCSSVPPSPSFSAPSPGS GSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQMAAAAGAGAGASLGGSGEEMGPA AAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHVLESEK NQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFITEPTRKLEPSVGYATFWKPQHRVLTSV FTK*

Gene Symbol:	MAF
Accession:	NM_001031804
Location:	EXON
Amino Acid Prediction:	L to M (nonsynonymous)
Amino Acid Position:	138

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPMSTPCSSVPPSPSFSAPSPGS GSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQMAAAAGAGAGASLGGSGEEMGPA AAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHVLESEK NQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFM*

Gene Symbol:	MAF
Accession:	XM_017023234
Location:	EXON
Amino Acid Prediction:	L to M (nonsynonymous)
Amino Acid Position:	138

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPMSTPCSSVPPSPSFSAPSPGS GSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQMAAAAGAGAGASLGGSGEEMGPA AAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHVLESEK NQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFMYPRESSTSVM*

Gene Symbol:	MAF
Accession:	XM_017023235
Location:	EXON
Amino Acid Prediction:	L to M (nonsynonymous)
Amino Acid Position:	138

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPMSTPCSSVPPSPSFSAPSPGS GSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQMAAAAGAGAGASLGGSGEEMGPA AAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHVLESEK NQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFMYPRESSTSVM*

Gene Symbol:	MAF
Accession:	XM_017023233
Location:	EXON
Amino Acid Prediction:	L to M (nonsynonymous)
Amino Acid Position:	138

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPMSTPCSSVPPSPSFSAPSPGS GSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQMAAAAGAGAGASLGGSGEEMGPA AAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHVLESEK NQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFMYPRESSTSVM*

Gene Symbol:	MAF
Accession:	XM_024450279
Location:	EXON
Amino Acid Prediction:	L to M (nonsynonymous)
Amino Acid Position:	138

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPMSTPCSSVPPSPSFSAPSPGS GSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQMAAAAGAGAGASLGGSGEEMGPA AAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHVLESEK NQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFMYPRESSTSVM*

Gene Symbol:	MAF
Accession:	XR_001751902
Location:	EXON;NON-CODING

Gene Symbol:	MAF
Accession:	XR_002957804
Location:	EXON;NON-CODING

Gene Symbol:	MAF
Accession:	XR_002957803
Location:	EXON;NON-CODING

Gene Symbol:	MAF
Accession:	XR_002957802
Location:	EXON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

PMID:25064449	PMID:25741868	PMID:25865493	PMID:28492532	PMID:30659945

Database	Acc Id	Source(s)
ClinVar	RCV002273193	CLINVAR
	RCV003096150	CLINVAR
	RCV004809804	CLINVAR
dbSNP (RS)	rs771268967	CLINVAR
MedGen	C1857768	CLINVAR
	C3661900	CLINVAR
NCBI Gene	MAF	CLINVAR
OMIM	177075	CLINVAR
	601088	CLINVAR
	610202	CLINVAR