ClinVar

NM_145266.6(NUDCD2):c.139C>T (p.Leu47Phe)

Genes:

LOC129995199:ATAC-STARR-seq lymphoblastoid active region 23577 [Gene]
NUDCD2:NudC domain containing 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q34

Genomic location:

• Chr5: 163459912 (on Assembly GRCh38)
• Chr5: 162886918 (on Assembly GRCh37)

Preferred name:

NM_145266.6(NUDCD2):c.139C>T (p.Leu47Phe)

HGVS:

• NC_000005.10:g.163459912G>A
• NG_023309.1:g.4402G>A
• NG_174645.1:g.194G>A
• NM_001329991.2:c.-879C>T
• NM_145266.6:c.139C>TMANE SELECT
• NP_660309.1:p.Leu47Phe
• NC_000005.9:g.162886918G>A
• NM_145266.4:c.139C>T
• NR_138426.2:n.191C>T
• NR_138427.2:n.191C>T

This HGVS expression did not pass validation

Protein change:

L47F

Molecular consequence:

• NM_001329991.2:c.-879C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_145266.6:c.139C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_138426.2:n.191C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_138427.2:n.191C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]