ClinVar

NM_001199799.2(ILDR1):c.720G>C (p.Trp240Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q13.33

Genomic location:

• Chr3: 121994240 (on Assembly GRCh38)
• Chr3: 121713087 (on Assembly GRCh37)

Preferred name:

NM_001199799.2(ILDR1):c.720G>C (p.Trp240Cys)

HGVS:

• NC_000003.12:g.121994240C>G
• NG_031870.2:g.71315G>C
• NM_001199799.1:c.720G>C
• NM_001199799.2:c.720G>CMANE SELECT
• NM_001199800.2:c.453G>C
• NM_175924.4:c.647-270G>C
• NP_001186728.1:p.Trp240Cys
• NP_001186729.1:p.Trp151Cys
• LRG_1377t1:c.720G>C
• LRG_1377:g.71315G>C
• LRG_1377p1:p.Trp240Cys
• NC_000003.11:g.121713087C>G
• NG_031870.1:g.33041G>C

This HGVS expression did not pass validation

Protein change:

W151C

Links:

dbSNP: rs544860151

NCBI 1000 Genomes Browser:

rs544860151

Molecular consequence:

• NM_175924.4:c.647-270G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199799.2:c.720G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199800.2:c.453G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1