ClinVar

NM_003977.4(AIP):c.792C>T (p.Asn264=)

Gene:

AIP:aryl hydrocarbon receptor interacting protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 67490792 (on Assembly GRCh38)
• Chr11: 67258263 (on Assembly GRCh37)

Preferred name:

NM_003977.4(AIP):c.792C>T (p.Asn264=)

HGVS:

• NC_000011.10:g.67490792C>T
• NG_008969.1:g.12759C>T
• NM_001302959.2:c.615C>T
• NM_001302960.2:c.784C>T
• NM_003977.4:c.792C>TMANE SELECT
• NP_001289888.1:p.Asn205=
• NP_001289889.1:p.Arg262Cys
• NP_003968.3:p.Asn264=
• LRG_460t1:c.792C>T
• LRG_460:g.12759C>T
• NC_000011.9:g.67258263C>T
• NM_003977.2:c.792C>T
• NM_003977.4:c.792C>T

This HGVS expression did not pass validation

Protein change:

R262C

Links:

dbSNP: rs780707460

NCBI 1000 Genomes Browser:

rs780707460

Molecular consequence:

• NM_001302960.2:c.784C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001302959.2:c.615C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003977.4:c.792C>T - synonymous variant - [Sequence Ontology: SO:0001819]