ClinVar

NM_000572.3(IL10):c.228T>C (p.Gly76=)

Genes:

LOC129932369:ATAC-STARR-seq lymphoblastoid active region 2419 [Gene]
IL10:interleukin 10 [Gene - OMIM - HGNC]
IL19:interleukin 19 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.1

Genomic location:

• Chr1: 206771057 (on Assembly GRCh38)
• Chr1: 206944402 (on Assembly GRCh37)

Preferred name:

NM_000572.3(IL10):c.228T>C (p.Gly76=)

HGVS:

• NC_000001.11:g.206771057A>G
• NG_012088.1:g.6438T>C
• NG_165401.1:g.224A>G
• NM_000572.3:c.228T>CMANE SELECT
• NM_001382624.1:c.-28T>C
• NM_001393490.1:c.-149+227A>G
• NM_153758.5:c.-170A>GMANE SELECT
• NP_000563.1:p.Gly76=
• LRG_1230t1:c.228T>C
• LRG_1230:g.6438T>C
• LRG_1230p1:p.Gly76=
• NC_000001.10:g.206944402A>G
• NM_000572.2:c.228T>C
• NR_168466.1:n.287T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs139352858

NCBI 1000 Genomes Browser:

rs139352858

Molecular consequence:

• NM_001382624.1:c.-28T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_153758.5:c.-170A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001393490.1:c.-149+227A>G - intron variant - [Sequence Ontology: SO:0001627]
• NR_168466.1:n.287T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000572.3:c.228T>C - synonymous variant - [Sequence Ontology: SO:0001819]