ClinVar

NM_000268.4(NF2):c.1446+6C>A

Gene:

NF2:NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.2

Genomic location:

• Chr22: 29674947 (on Assembly GRCh38)
• Chr22: 30070936 (on Assembly GRCh37)

Preferred name:

NM_000268.4(NF2):c.1446+6C>A

HGVS:

• NC_000022.11:g.29674947C>A
• NG_009057.1:g.76392C>A
• NM_000268.4:c.1446+6C>AMANE SELECT
• NM_016418.5:c.1446+6C>A
• NM_181825.3:c.1446+6C>A
• NM_181828.3:c.1320+6C>A
• NM_181829.3:c.1323+6C>A
• NM_181830.3:c.1197+6C>A
• NM_181831.3:c.1197+6C>A
• NM_181832.3:c.1446+6C>A
• NM_181833.3:c.448-19805C>A
• LRG_511t1:c.1446+6C>A
• LRG_511t2:c.1446+6C>A
• LRG_511:g.76392C>A
• NC_000022.10:g.30070936C>A
• NM_000268.3:c.1446+6C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs878853924

NCBI 1000 Genomes Browser:

rs878853924

Molecular consequence:

• NM_000268.4:c.1446+6C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_016418.5:c.1446+6C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_181825.3:c.1446+6C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_181828.3:c.1320+6C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_181829.3:c.1323+6C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_181830.3:c.1197+6C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_181831.3:c.1197+6C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_181832.3:c.1446+6C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_181833.3:c.448-19805C>A - intron variant - [Sequence Ontology: SO:0001627]