ClinVar

NM_001136.5(AGER):c.975G>A (p.Glu325=)

Gene:

AGER:advanced glycosylation end-product specific receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.32

Genomic location:

• Chr6: 32181622 (on Assembly GRCh38)
• Chr6: 32149399 (on Assembly GRCh37)

Preferred name:

NM_001136.5(AGER):c.975G>A (p.Glu325=)

HGVS:

• NC_000006.12:g.32181622C>T
• NG_029868.1:g.7701G>A
• NM_001136.5:c.975G>AMANE SELECT
• NM_001206929.2:c.1023G>A
• NM_001206932.2:c.933G>A
• NM_001206934.2:c.1023G>A
• NM_001206936.2:c.923G>A
• NM_001206940.2:c.975G>A
• NM_001206954.2:c.833G>A
• NM_001206966.2:c.975G>A
• NM_172197.3:c.820G>A
• NP_001127.1:p.Glu325=
• NP_001193858.1:p.Glu341=
• NP_001193861.1:p.Glu311=
• NP_001193863.1:p.Glu341=
• NP_001193865.1:p.Arg308Lys
• NP_001193869.1:p.Glu325=
• NP_001193883.1:p.Arg278Lys
• NP_001193895.1:p.Glu325=
• NP_751947.1:p.Gly274Arg
• NC_000006.11:g.32149399C>T
• NM_001136.4:c.975G>A
• NR_038190.2:n.1189G>A

This HGVS expression did not pass validation

Protein change:

G274R

Links:

dbSNP: rs1162823369

NCBI 1000 Genomes Browser:

rs1162823369

Molecular consequence:

• NM_001206936.2:c.923G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001206954.2:c.833G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172197.3:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_038190.2:n.1189G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001136.5:c.975G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001206929.2:c.1023G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001206932.2:c.933G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001206934.2:c.1023G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001206940.2:c.975G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001206966.2:c.975G>A - synonymous variant - [Sequence Ontology: SO:0001819]