ClinVar

NM_001378030.1(CCDC78):c.1020C>T (p.Pro340=)

Gene:

CCDC78:coiled-coil domain containing 78 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 724139 (on Assembly GRCh38)
• Chr16: 774139 (on Assembly GRCh37)

Preferred name:

NM_001378030.1(CCDC78):c.1020C>T (p.Pro340=)

HGVS:

• NC_000016.10:g.724139G>A
• NG_032932.1:g.7335C>T
• NM_001031737.3:c.1020C>T
• NM_001378030.1:c.1020C>TMANE SELECT
• NM_001378031.1:c.953+183C>T
• NM_001378033.1:c.453C>T
• NP_001026907.2:p.Pro340=
• NP_001364959.1:p.Pro340=
• NP_001364962.1:p.Pro151=
• LRG_705t1:c.1020C>T
• LRG_705t2:c.1020C>T
• LRG_705:g.7335C>T
• LRG_705p1:p.Pro340=
• LRG_705p2:p.Pro340=
• NC_000016.9:g.774139G>A
• NR_165382.1:n.1577C>T
• NR_165383.1:n.1223C>T
• NR_165384.1:n.1188C>T
• NR_165385.1:n.1288C>T
• NR_165386.1:n.1355C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1319236751

NCBI 1000 Genomes Browser:

rs1319236751

Molecular consequence:

• NM_001378031.1:c.953+183C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_165382.1:n.1577C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_165383.1:n.1223C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_165384.1:n.1188C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_165385.1:n.1288C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_165386.1:n.1355C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001031737.3:c.1020C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001378030.1:c.1020C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001378033.1:c.453C>T - synonymous variant - [Sequence Ontology: SO:0001819]