ClinVar

NM_004448.4(ERBB2):c.3573G>A (p.Val1191=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q12

Genomic location:

• Chr17: 39727849 (on Assembly GRCh38)
• Chr17: 37884102 (on Assembly GRCh37)

Preferred name:

NM_004448.4(ERBB2):c.3573G>A (p.Val1191=)

HGVS:

• NC_000017.11:g.39727849G>A
• NG_007503.1:g.44710G>A
• NM_001005862.3:c.3483G>A
• NM_001289936.2:c.3528G>A
• NM_001289937.2:c.*152G>A
• NM_001382782.1:c.3483G>A
• NM_001382783.1:c.3483G>A
• NM_001382784.1:c.3690G>A
• NM_001382785.1:c.3675G>A
• NM_001382786.1:c.3654G>A
• NM_001382787.1:c.3648G>A
• NM_001382788.1:c.3603G>A
• NM_001382789.1:c.3594G>A
• NM_001382790.1:c.3570G>A
• NM_001382791.1:c.3564G>A
• NM_001382792.1:c.3537G>A
• NM_001382793.1:c.3531G>A
• NM_001382794.1:c.3531G>A
• NM_001382795.1:c.3525G>A
• NM_001382796.1:c.3486G>A
• NM_001382797.1:c.3474G>A
• NM_001382798.1:c.3417G>A
• NM_001382799.1:c.3393G>A
• NM_001382800.1:c.3387G>A
• NM_001382801.1:c.3369G>A
• NM_001382802.1:c.3315G>A
• NM_001382803.1:c.*152G>A
• NM_001382804.1:c.2745G>A
• NM_001382805.1:c.2622G>A
• NM_001382806.1:c.2535G>A
• NM_004448.4:c.3573G>AMANE SELECT
• NP_001005862.1:p.Val1161=
• NP_001005862.1:p.Val1161=
• NP_001276865.1:p.Val1176=
• NP_001276865.1:p.Val1176=
• NP_001369711.1:p.Val1161=
• NP_001369712.1:p.Val1161=
• NP_001369713.1:p.Val1230=
• NP_001369714.1:p.Val1225=
• NP_001369715.1:p.Val1218=
• NP_001369716.1:p.Val1216=
• NP_001369717.1:p.Val1201=
• NP_001369718.1:p.Val1198=
• NP_001369719.1:p.Val1190=
• NP_001369720.1:p.Val1188=
• NP_001369721.1:p.Val1179=
• NP_001369722.1:p.Val1177=
• NP_001369723.1:p.Val1177=
• NP_001369724.1:p.Val1175=
• NP_001369725.1:p.Val1162=
• NP_001369726.1:p.Val1158=
• NP_001369727.1:p.Val1139=
• NP_001369728.1:p.Val1131=
• NP_001369729.1:p.Val1129=
• NP_001369730.1:p.Val1123=
• NP_001369731.1:p.Val1105=
• NP_001369733.1:p.Val915=
• NP_001369734.1:p.Val874=
• NP_001369735.1:p.Val845=
• NP_004439.2:p.Val1191=
• NP_004439.2:p.Val1191=
• LRG_724t1:c.3483G>A
• LRG_724t2:c.3573G>A
• LRG_724t4:c.3528G>A
• LRG_724:g.44710G>A
• LRG_724p1:p.Val1161=
• LRG_724p2:p.Val1191=
• LRG_724p4:p.Val1176=
• NC_000017.10:g.37884102G>A
• NM_001005862.2:c.3483G>A
• NM_001289936.1:c.3528G>A
• NM_004448.3:c.3573G>A
• NR_110535.2:n.3811G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001289937.2:c.*152G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001382803.1:c.*152G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_110535.2:n.3811G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001005862.3:c.3483G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001289936.2:c.3528G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382782.1:c.3483G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382783.1:c.3483G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382784.1:c.3690G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382785.1:c.3675G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382786.1:c.3654G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382787.1:c.3648G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382788.1:c.3603G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382789.1:c.3594G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382790.1:c.3570G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382791.1:c.3564G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382792.1:c.3537G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382793.1:c.3531G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382794.1:c.3531G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382795.1:c.3525G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382796.1:c.3486G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382797.1:c.3474G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382798.1:c.3417G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382799.1:c.3393G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382800.1:c.3387G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382801.1:c.3369G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382802.1:c.3315G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382804.1:c.2745G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382805.1:c.2622G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382806.1:c.2535G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004448.4:c.3573G>A - synonymous variant - [Sequence Ontology: SO:0001819]