ClinVar

NM_004260.4(RECQL4):c.85-16C>T

Genes:

LOC130001411:ATAC-STARR-seq lymphoblastoid silent region 19699 [Gene]
RECQL4:RecQ like helicase 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

• Chr8: 144517651 (on Assembly GRCh38)
• Chr8: 145743035 (on Assembly GRCh37)

Preferred name:

NM_004260.4(RECQL4):c.85-16C>T

HGVS:

• NC_000008.11:g.144517651G>A
• NG_016430.2:g.5176C>T
• NG_033083.1:g.4687G>A
• NG_033083.2:g.4661G>A
• NM_001413021.1:c.-652C>T
• NM_001413022.1:c.-1003C>T
• NM_001413023.1:c.-1003C>T
• NM_001413024.1:c.-900C>T
• NM_001413028.1:c.-728C>T
• NM_001413030.1:c.-1065C>T
• NM_001413031.1:c.-1065C>T
• NM_001413034.1:c.-907C>T
• NM_001413037.1:c.-1003C>T
• NM_001413038.1:c.-1003C>T
• NM_001413040.1:c.-908C>T
• NM_001413041.1:c.-1065C>T
• NM_001413042.1:c.-1003C>T
• NM_001413043.1:c.-1272C>T
• NM_004260.4:c.85-16C>TMANE SELECT
• LRG_277t1:c.85-16C>T
• LRG_277:g.5176C>T
• NC_000008.10:g.145743035G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_004260.4:c.85-16C>T - intron variant - [Sequence Ontology: SO:0001627]