ClinVar

NM_003977.4(AIP):c.804C>T (p.Tyr268=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 67490804 (on Assembly GRCh38)
• Chr11: 67258275 (on Assembly GRCh37)

Preferred name:

NM_003977.4(AIP):c.804C>T (p.Tyr268=)

HGVS:

• NC_000011.10:g.67490804C>T
• NG_008969.1:g.12771C>T
• NM_001302959.2:c.627C>T
• NM_001302960.2:c.796C>T
• NM_003977.4:c.804C>TMANE SELECT
• NP_001289888.1:p.Tyr209=
• NP_001289889.1:p.Leu266Phe
• NP_003968.3:p.Tyr268=
• LRG_460t1:c.804C>T
• LRG_460:g.12771C>T
• NC_000011.9:g.67258275C>T
• NC_000011.9:g.67258275C>T
• NM_003977.2:c.804C>T

This HGVS expression did not pass validation

Protein change:

L266F

Links:

dbSNP: rs121908356

NCBI 1000 Genomes Browser:

rs121908356

Molecular consequence:

• NM_001302960.2:c.796C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001302959.2:c.627C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003977.4:c.804C>T - synonymous variant - [Sequence Ontology: SO:0001819]