ClinVar

NM_213595.4(ISCU):c.90C>T (p.Ala30=)

Genes:

LOC130008688:ATAC-STARR-seq lymphoblastoid silent region 4828 [Gene]
ISCU:iron-sulfur cluster assembly enzyme [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.3

Genomic location:

• Chr12: 108562712 (on Assembly GRCh38)
• Chr12: 108956488 (on Assembly GRCh37)

Preferred name:

NM_213595.4(ISCU):c.90C>T (p.Ala30=)

HGVS:

• NC_000012.12:g.108562712C>T
• NG_011857.1:g.5195C>T
• NG_012155.2:g.3678G>A
• NM_001301140.1:c.90C>T
• NM_001301141.1:c.90C>T
• NM_001320042.1:c.90C>T
• NM_014301.4:c.-82C>T
• NM_213595.4:c.90C>TMANE SELECT
• NP_001288069.1:p.Ala30=
• NP_001288070.1:p.Ala30=
• NP_001306971.1:p.Ala30=
• NP_998760.1:p.Ala30=
• LRG_1285:g.3678G>A
• NC_000012.11:g.108956488C>T
• NR_135127.1:n.1250C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs961828853

NCBI 1000 Genomes Browser:

rs961828853

Molecular consequence:

• NM_014301.4:c.-82C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_135127.1:n.1250C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001301140.1:c.90C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001301141.1:c.90C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001320042.1:c.90C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_213595.4:c.90C>T - synonymous variant - [Sequence Ontology: SO:0001819]