ClinVar

NM_003977.4(AIP):c.911G>A (p.Arg304Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 67490911 (on Assembly GRCh38)
• Chr11: 67258382 (on Assembly GRCh37)

Preferred name:

NM_003977.4(AIP):c.911G>A (p.Arg304Gln)

HGVS:

• NC_000011.10:g.67490911G>A
• NG_008969.1:g.12878G>A
• NM_001302959.2:c.734G>A
• NM_001302960.2:c.*51G>A
• NM_003977.4:c.911G>AMANE SELECT
• NP_001289888.1:p.Arg245Gln
• NP_003968.3:p.Arg304Gln
• LRG_460t1:c.911G>A
• LRG_460:g.12878G>A
• NC_000011.9:g.67258382G>A
• NM_003977.2:c.911G>A
• NM_003977.3:c.911G>A

This HGVS expression did not pass validation

Protein change:

R245Q; ARG304GLN

Links:

OMIM: 605555.0008; dbSNP: rs104894190

NCBI 1000 Genomes Browser:

rs104894190

Molecular consequence:

• NM_001302960.2:c.*51G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001302959.2:c.734G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003977.4:c.911G>A - missense variant - [Sequence Ontology: SO:0001583]