ClinVar

NM_001199799.2(ILDR1):c.726G>A (p.Ala242=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q13.33

Genomic location:

• Chr3: 121994234 (on Assembly GRCh38)
• Chr3: 121713081 (on Assembly GRCh37)

Preferred name:

NM_001199799.2(ILDR1):c.726G>A (p.Ala242=)

HGVS:

• NC_000003.12:g.121994234C>T
• NG_031870.2:g.71321G>A
• NM_001199799.2:c.726G>AMANE SELECT
• NM_001199800.2:c.459G>A
• NM_175924.4:c.647-264G>A
• NP_001186728.1:p.Ala242=
• NP_001186729.1:p.Ala153=
• LRG_1377t1:c.726G>A
• LRG_1377:g.71321G>A
• LRG_1377p1:p.Ala242=
• NC_000003.11:g.121713081C>T
• NG_031870.1:g.33047G>A
• NM_001199799.1:c.726G>A
• c.726G>A
• p.Ala242Ala

This HGVS expression did not pass validation

Links:

dbSNP: rs114464909

NCBI 1000 Genomes Browser:

rs114464909

Molecular consequence:

• NM_175924.4:c.647-264G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199799.2:c.726G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001199800.2:c.459G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

12