ClinVar

NM_004448.4(ERBB2):c.3482G>A (p.Arg1161Gln)

Gene:

ERBB2:erb-b2 receptor tyrosine kinase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q12

Genomic location:

• Chr17: 39727758 (on Assembly GRCh38)
• Chr17: 37884011 (on Assembly GRCh37)

Preferred name:

NM_004448.4(ERBB2):c.3482G>A (p.Arg1161Gln)

HGVS:

• NC_000017.11:g.39727758G>A
• NG_007503.1:g.44619G>A
• NM_001005862.3:c.3392G>A
• NM_001289936.2:c.3437G>A
• NM_001289937.2:c.*61G>A
• NM_001382782.1:c.3392G>A
• NM_001382783.1:c.3392G>A
• NM_001382784.1:c.3599G>A
• NM_001382785.1:c.3584G>A
• NM_001382786.1:c.3563G>A
• NM_001382787.1:c.3557G>A
• NM_001382788.1:c.3512G>A
• NM_001382789.1:c.3503G>A
• NM_001382790.1:c.3479G>A
• NM_001382791.1:c.3473G>A
• NM_001382792.1:c.3446G>A
• NM_001382793.1:c.3440G>A
• NM_001382794.1:c.3440G>A
• NM_001382795.1:c.3434G>A
• NM_001382796.1:c.3395G>A
• NM_001382797.1:c.3383G>A
• NM_001382798.1:c.3326G>A
• NM_001382799.1:c.3302G>A
• NM_001382800.1:c.3296G>A
• NM_001382801.1:c.3278G>A
• NM_001382802.1:c.3224G>A
• NM_001382803.1:c.*61G>A
• NM_001382804.1:c.2654G>A
• NM_001382805.1:c.2531G>A
• NM_001382806.1:c.2444G>A
• NM_004448.4:c.3482G>AMANE SELECT
• NP_001005862.1:p.Arg1131Gln
• NP_001276865.1:p.Arg1146Gln
• NP_001369711.1:p.Arg1131Gln
• NP_001369712.1:p.Arg1131Gln
• NP_001369713.1:p.Arg1200Gln
• NP_001369714.1:p.Arg1195Gln
• NP_001369715.1:p.Arg1188Gln
• NP_001369716.1:p.Arg1186Gln
• NP_001369717.1:p.Arg1171Gln
• NP_001369718.1:p.Arg1168Gln
• NP_001369719.1:p.Arg1160Gln
• NP_001369720.1:p.Arg1158Gln
• NP_001369721.1:p.Arg1149Gln
• NP_001369722.1:p.Arg1147Gln
• NP_001369723.1:p.Arg1147Gln
• NP_001369724.1:p.Arg1145Gln
• NP_001369725.1:p.Arg1132Gln
• NP_001369726.1:p.Arg1128Gln
• NP_001369727.1:p.Arg1109Gln
• NP_001369728.1:p.Arg1101Gln
• NP_001369729.1:p.Arg1099Gln
• NP_001369730.1:p.Arg1093Gln
• NP_001369731.1:p.Arg1075Gln
• NP_001369733.1:p.Arg885Gln
• NP_001369734.1:p.Arg844Gln
• NP_001369735.1:p.Arg815Gln
• NP_004439.2:p.Arg1161Gln
• LRG_724:g.44619G>A
• NC_000017.10:g.37884011G>A
• NR_110535.2:n.3720G>A

This HGVS expression did not pass validation

Protein change:

R1075Q

Links:

dbSNP: rs150680317

NCBI 1000 Genomes Browser:

rs150680317

Molecular consequence:

• NM_001289937.2:c.*61G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001382803.1:c.*61G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001005862.3:c.3392G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289936.2:c.3437G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382782.1:c.3392G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382783.1:c.3392G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382784.1:c.3599G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382785.1:c.3584G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382786.1:c.3563G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382787.1:c.3557G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382788.1:c.3512G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382789.1:c.3503G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382790.1:c.3479G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382791.1:c.3473G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382792.1:c.3446G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382793.1:c.3440G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382794.1:c.3440G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382795.1:c.3434G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382796.1:c.3395G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382797.1:c.3383G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382798.1:c.3326G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382799.1:c.3302G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382800.1:c.3296G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382801.1:c.3278G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382802.1:c.3224G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382804.1:c.2654G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382805.1:c.2531G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382806.1:c.2444G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004448.4:c.3482G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_110535.2:n.3720G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]