ClinVar

NM_024596.5(MCPH1):c.1402A>T (p.Thr468Ser)

Gene:

MCPH1:microcephalin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.1

Genomic location:

• Chr8: 6445124 (on Assembly GRCh38)
• Chr8: 6302645 (on Assembly GRCh37)

Preferred name:

NM_024596.5(MCPH1):c.1402A>T (p.Thr468Ser)

HGVS:

• NC_000008.11:g.6445124A>T
• NG_016619.2:g.43533A>T
• NM_001172574.2:c.1402A>T
• NM_001172575.2:c.1258A>T
• NM_001322042.2:c.1402A>T
• NM_001322043.2:c.1396A>T
• NM_001322045.2:c.1300A>T
• NM_001363979.1:c.1402A>T
• NM_001363980.2:c.1402A>T
• NM_024596.5:c.1402A>TMANE SELECT
• NP_001166045.2:p.Thr468Ser
• NP_001166046.1:p.Thr420Ser
• NP_001308971.2:p.Thr468Ser
• NP_001308972.2:p.Thr466Ser
• NP_001308974.2:p.Thr434Ser
• NP_001350908.1:p.Thr468Ser
• NP_001350909.1:p.Thr468Ser
• NP_078872.3:p.Thr468Ser
• NC_000008.10:g.6302645A>T
• NR_136159.2:n.1328A>T

This HGVS expression did not pass validation

Protein change:

T420S

Links:

dbSNP: rs1472912410

NCBI 1000 Genomes Browser:

rs1472912410

Molecular consequence:

• NM_001172574.2:c.1402A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001172575.2:c.1258A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322042.2:c.1402A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322043.2:c.1396A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322045.2:c.1300A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363979.1:c.1402A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363980.2:c.1402A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_024596.5:c.1402A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_136159.2:n.1328A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]