ClinVar

NM_001002755.4(NFU1):c.-6A>G

Genes:

LOC129934004:ATAC-STARR-seq lymphoblastoid active region 15971 [Gene]
NFU1:NFU1 iron-sulfur cluster scaffold [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.3

Genomic location:

• Chr2: 69437428 (on Assembly GRCh38)
• Chr2: 69664560 (on Assembly GRCh37)

Preferred name:

NM_001002755.4(NFU1):c.-6A>G

HGVS:

• NC_000002.12:g.69437428T>C
• NG_031931.1:g.5201A>G
• NM_001002755.4:c.-6A>GMANE SELECT
• NM_001002756.2:c.-383A>G
• NM_001374284.1:c.-11+625A>G
• NM_015700.4:c.-168A>G
• NC_000002.11:g.69664560T>C
• NM_001002755.2:c.-6A>G
• NR_045631.2:n.8A>G
• NR_045632.2:n.8A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs116604978

NCBI 1000 Genomes Browser:

rs116604978

Molecular consequence:

• NM_001002755.4:c.-6A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001002756.2:c.-383A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_015700.4:c.-168A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001374284.1:c.-11+625A>G - intron variant - [Sequence Ontology: SO:0001627]
• NR_045631.2:n.8A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_045632.2:n.8A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]