ClinVar

NM_020070.4(IGLL1):c.549C>T (p.Pro183=)

Gene:

IGLL1:immunoglobulin lambda like polypeptide 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.23

Genomic location:

• Chr22: 23573359 (on Assembly GRCh38)
• Chr22: 23915546 (on Assembly GRCh37)

Preferred name:

NM_020070.4(IGLL1):c.549C>T (p.Pro183=)

HGVS:

• NC_000022.11:g.23573359G>A
• NG_009791.1:g.11950C>T
• NM_001369906.1:c.552C>T
• NM_020070.4:c.549C>TMANE SELECT
• NM_152855.3:c.*178C>T
• NP_001356835.1:p.Pro184=
• NP_064455.1:p.Pro183=
• LRG_69:g.11950C>T
• NC_000022.10:g.23915546G>A
• NM_020070.3:c.549C>T
• p.Pro183Pro

This HGVS expression did not pass validation

Links:

dbSNP: rs75088277

NCBI 1000 Genomes Browser:

rs75088277

Molecular consequence:

• NM_152855.3:c.*178C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001369906.1:c.552C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020070.4:c.549C>T - synonymous variant - [Sequence Ontology: SO:0001819]