ClinVar

NM_001199799.2(ILDR1):c.1240C>T (p.His414Tyr)

Gene:

ILDR1:immunoglobulin like domain containing receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q13.33

Genomic location:

• Chr3: 121993509 (on Assembly GRCh38)
• Chr3: 121712356 (on Assembly GRCh37)

Preferred name:

NM_001199799.2(ILDR1):c.1240C>T (p.His414Tyr)

HGVS:

• NC_000003.12:g.121993509G>A
• NG_031870.2:g.72046C>T
• NM_001199799.2:c.1240C>TMANE SELECT
• NM_001199800.2:c.973C>T
• NM_175924.4:c.1108C>T
• NP_001186728.1:p.His414Tyr
• NP_001186729.1:p.His325Tyr
• NP_787120.1:p.His370Tyr
• LRG_1377t1:c.1240C>T
• LRG_1377:g.72046C>T
• LRG_1377p1:p.His414Tyr
• NC_000003.11:g.121712356G>A
• NM_001199799.1:c.1240C>T

This HGVS expression did not pass validation

Protein change:

H325Y

Molecular consequence:

• NM_001199799.2:c.1240C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199800.2:c.973C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_175924.4:c.1108C>T - missense variant - [Sequence Ontology: SO:0001583]