ClinVar

NM_025152.3(NUBPL):c.*1149_*1150insA

Gene:

NUBPL:NUBP iron-sulfur cluster assembly factor, mitochondrial [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

14q12

Genomic location:

• Chr14: 31860329 - 31860330 (on Assembly GRCh38)
• Chr14: 32329535 - 32329536 (on Assembly GRCh37)

Preferred name:

NM_025152.3(NUBPL):c.*1149_*1150insA

HGVS:

• NC_000014.9:g.31860329_31860330insA
• NG_028349.1:g.303945_303946insA
• NM_001201573.2:c.*1149_*1150insA
• NM_001201574.2:c.*1149_*1150insA
• NM_025152.3:c.*1149_*1150insAMANE SELECT
• NC_000014.8:g.32329535_32329536insA
• NM_025152.2:c.*1149_*1150insA
• NR_120408.2:n.2051_2052insA

This HGVS expression did not pass validation

Links:

dbSNP: rs886050466

NCBI 1000 Genomes Browser:

rs886050466

Molecular consequence:

• NM_001201573.2:c.*1149_*1150insA - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001201574.2:c.*1149_*1150insA - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_025152.3:c.*1149_*1150insA - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_120408.2:n.2051_2052insA - non-coding transcript variant - [Sequence Ontology: SO:0001619]